This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA2260783159
Community Standard Title: NM_007294.4(BRCA1):c.2671_2672delinsTC (p.Ser891=)
Gene: BRCA1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092859_43092860delinsGA , CM000679.2:g.43092859_43092860delinsGA GRCh38
NC_000017.10:g.41244876_41244877delinsGA , CM000679.1:g.41244876_41244877delinsGA GRCh37
NC_000017.9:g.38498402_38498403delinsGA NCBI36
NG_005905.2:g.125124_125125delinsTC , LRG_292:g.125124_125125delinsTC

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.2671_2672delinsTC MANE Select NP_009225.1:p.Ser891=
ENST00000357654.9:c.2671_2672delinsTC MANE Select ENSP00000350283.3:p.Ser891=
NM_007294.3:c.2671_2672delinsTC , LRG_292t1:c.2671_2672delinsTC NP_009225.1:p.Ser891=
NM_007297.3:c.2530_2531delinsTC NP_009228.2:p.Ser844=
NM_007297.4:c.2530_2531delinsTC NP_009228.2:p.Ser844=
NM_007298.3:c.788-1828_788-1827delinsTC NP_009229.2:n.788-1828_788-1827delinsTC
NM_007299.3:c.788-1828_788-1827delinsTC NP_009230.2:n.788-1828_788-1827delinsTC
NM_007299.4:c.788-1828_788-1827delinsTC NP_009230.2:n.788-1828_788-1827delinsTC
NM_007300.3:c.2671_2672delinsTC NP_009231.2:p.Ser891=
NM_007300.4:c.2671_2672delinsTC NP_009231.2:p.Ser891=
NR_027676.1:n.2807_2808delinsTC
NR_027676.2:n.2848_2849delinsTC
ENST00000352993.7:c.671-1828_671-1827delinsTC ENSP00000312236.5:n.671-1828_671-1827delinsTC
ENST00000354071.7:c.2671_2672delinsTC ENSP00000326002.7:p.Ser891=
ENST00000354071.8:n.2735_2736delinsTC
ENST00000357654.7:c.2671_2672delinsTC ENSP00000350283.3:p.Ser891=
ENST00000461221.5:c.*2454_*2455delinsTC ENSP00000418548.1:n.*2454_*2455delinsTC
ENST00000461574.2:c.2671_2672delinsTC ENSP00000417241.2:p.Ser891=
ENST00000468300.5:c.788-1828_788-1827delinsTC ENSP00000417148.1:n.788-1828_788-1827delinsTC
ENST00000470026.6:c.2671_2672delinsTC ENSP00000419274.2:p.Ser891=
ENST00000471181.6:c.2671_2672delinsTC ENSP00000418960.2:p.Ser891=
ENST00000471181.7:c.2671_2672delinsTC ENSP00000418960.2:p.Ser891=
ENST00000473961.6:c.2545_2546delinsTC ENSP00000420201.2:p.Ser849=
ENST00000476777.6:c.2668_2669delinsTC ENSP00000417554.2:p.Ser890=
ENST00000477152.6:c.2593_2594delinsTC ENSP00000419988.2:p.Ser865=
ENST00000478531.5:c.785-1828_785-1827delinsTC ENSP00000420412.1:n.785-1828_785-1827delinsTC
ENST00000478531.6:c.785-1828_785-1827delinsTC ENSP00000420412.2:n.785-1828_785-1827delinsTC
ENST00000484087.5:c.410-1828_410-1827delinsTC ENSP00000419481.1:n.410-1828_410-1827delinsTC
ENST00000484087.6:c.665-1828_665-1827delinsTC ENSP00000419481.2:n.665-1828_665-1827delinsTC
ENST00000487825.5:c.413-1828_413-1827delinsTC ENSP00000418212.1:n.413-1828_413-1827delinsTC
ENST00000489037.2:c.2593_2594delinsTC ENSP00000420781.2:p.Ser865=
ENST00000491747.6:c.788-1828_788-1827delinsTC ENSP00000420705.2:n.788-1828_788-1827delinsTC
ENST00000493795.5:c.2530_2531delinsTC ENSP00000418775.1:p.Ser844=
ENST00000493919.5:c.647-1828_647-1827delinsTC ENSP00000418819.1:n.647-1828_647-1827delinsTC
ENST00000493919.6:c.647-1828_647-1827delinsTC ENSP00000418819.2:n.647-1828_647-1827delinsTC
ENST00000494123.6:c.2671_2672delinsTC ENSP00000419103.2:p.Ser891=
ENST00000497488.2:c.1783_1784delinsTC ENSP00000418986.2:p.Ser595=
ENST00000586385.5:c.5-28909_5-28908delinsTC ENSP00000465818.1:n.5-28909_5-28908delinsTC
ENST00000591534.5:c.-43-18339_-43-18338delinsTC ENSP00000467329.1:n.-43-18339_-43-18338delinsTC
ENST00000591849.5:c.-99+32411_-99+32412delinsTC ENSP00000465347.1:n.-99+32411_-99+32412delinsTC
ENST00000618469.2:c.2671_2672delinsTC ENSP00000478114.2:p.Ser891=
ENST00000634433.2:c.2548_2549delinsTC ENSP00000489431.2:p.Ser850=
ENST00000644379.2:c.2671_2672delinsTC ENSP00000496570.2:p.Ser891=
ENST00000644555.2:c.647-1828_647-1827delinsTC ENSP00000494614.2:n.647-1828_647-1827delinsTC
ENST00000652672.2:c.2530_2531delinsTC ENSP00000498906.2:p.Ser844=
ENST00000700182.1:c.707-1828_707-1827delinsTC ENSP00000514849.1:n.707-1828_707-1827delinsTC
Search 100 bp 5'
Search 100 bp 3'