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Canonical Allele Identifier: CA2260783161
Community Standard Title: NM_007294.4(BRCA1):c.2670_2671delinsGT (p.Gly890=)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092860_43092861delinsAC , CM000679.2:g.43092860_43092861delinsAC GRCh38
NC_000017.10:g.41244877_41244878delinsAC , CM000679.1:g.41244877_41244878delinsAC GRCh37
NC_000017.9:g.38498403_38498404delinsAC NCBI36
NG_005905.2:g.125123_125124delinsGT , LRG_292:g.125123_125124delinsGT

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.2670_2671delinsGT MANE Select NP_009225.1:p.Gly890=
ENST00000357654.9:c.2670_2671delinsGT MANE Select ENSP00000350283.3:p.Gly890=
NM_007294.3:c.2670_2671delinsGT , LRG_292t1:c.2670_2671delinsGT NP_009225.1:p.Gly890=
NM_007297.3:c.2529_2530delinsGT NP_009228.2:p.Gly843=
NM_007297.4:c.2529_2530delinsGT NP_009228.2:p.Gly843=
NM_007298.3:c.788-1829_788-1828delinsGT NP_009229.2:n.788-1829_788-1828delinsGT
NM_007299.3:c.788-1829_788-1828delinsGT NP_009230.2:n.788-1829_788-1828delinsGT
NM_007299.4:c.788-1829_788-1828delinsGT NP_009230.2:n.788-1829_788-1828delinsGT
NM_007300.3:c.2670_2671delinsGT NP_009231.2:p.Gly890=
NM_007300.4:c.2670_2671delinsGT NP_009231.2:p.Gly890=
NR_027676.1:n.2806_2807delinsGT
NR_027676.2:n.2847_2848delinsGT
ENST00000352993.7:c.671-1829_671-1828delinsGT ENSP00000312236.5:n.671-1829_671-1828delinsGT
ENST00000354071.7:c.2670_2671delinsGT ENSP00000326002.7:p.Gly890=
ENST00000354071.8:n.2734_2735delinsGT
ENST00000357654.7:c.2670_2671delinsGT ENSP00000350283.3:p.Gly890=
ENST00000461221.5:c.*2453_*2454delinsGT ENSP00000418548.1:n.*2453_*2454delinsGT
ENST00000461574.2:c.2670_2671delinsGT ENSP00000417241.2:p.Gly890=
ENST00000468300.5:c.788-1829_788-1828delinsGT ENSP00000417148.1:n.788-1829_788-1828delinsGT
ENST00000470026.6:c.2670_2671delinsGT ENSP00000419274.2:p.Gly890=
ENST00000471181.6:c.2670_2671delinsGT ENSP00000418960.2:p.Gly890=
ENST00000471181.7:c.2670_2671delinsGT ENSP00000418960.2:p.Gly890=
ENST00000473961.6:c.2544_2545delinsGT ENSP00000420201.2:p.Gly848=
ENST00000476777.6:c.2667_2668delinsGT ENSP00000417554.2:p.Gly889=
ENST00000477152.6:c.2592_2593delinsGT ENSP00000419988.2:p.Gly864=
ENST00000478531.5:c.785-1829_785-1828delinsGT ENSP00000420412.1:n.785-1829_785-1828delinsGT
ENST00000478531.6:c.785-1829_785-1828delinsGT ENSP00000420412.2:n.785-1829_785-1828delinsGT
ENST00000484087.5:c.410-1829_410-1828delinsGT ENSP00000419481.1:n.410-1829_410-1828delinsGT
ENST00000484087.6:c.665-1829_665-1828delinsGT ENSP00000419481.2:n.665-1829_665-1828delinsGT
ENST00000487825.5:c.413-1829_413-1828delinsGT ENSP00000418212.1:n.413-1829_413-1828delinsGT
ENST00000489037.2:c.2592_2593delinsGT ENSP00000420781.2:p.Gly864=
ENST00000491747.6:c.788-1829_788-1828delinsGT ENSP00000420705.2:n.788-1829_788-1828delinsGT
ENST00000493795.5:c.2529_2530delinsGT ENSP00000418775.1:p.Gly843=
ENST00000493919.5:c.647-1829_647-1828delinsGT ENSP00000418819.1:n.647-1829_647-1828delinsGT
ENST00000493919.6:c.647-1829_647-1828delinsGT ENSP00000418819.2:n.647-1829_647-1828delinsGT
ENST00000494123.6:c.2670_2671delinsGT ENSP00000419103.2:p.Gly890=
ENST00000497488.2:c.1782_1783delinsGT ENSP00000418986.2:p.Gly594=
ENST00000586385.5:c.5-28910_5-28909delinsGT ENSP00000465818.1:n.5-28910_5-28909delinsGT
ENST00000591534.5:c.-43-18340_-43-18339delinsGT ENSP00000467329.1:n.-43-18340_-43-18339delinsGT
ENST00000591849.5:c.-99+32410_-99+32411delinsGT ENSP00000465347.1:n.-99+32410_-99+32411delinsGT
ENST00000618469.2:c.2670_2671delinsGT ENSP00000478114.2:p.Gly890=
ENST00000634433.2:c.2547_2548delinsGT ENSP00000489431.2:p.Gly849=
ENST00000644379.2:c.2670_2671delinsGT ENSP00000496570.2:p.Gly890=
ENST00000644555.2:c.647-1829_647-1828delinsGT ENSP00000494614.2:n.647-1829_647-1828delinsGT
ENST00000652672.2:c.2529_2530delinsGT ENSP00000498906.2:p.Gly843=
ENST00000700182.1:c.707-1829_707-1828delinsGT ENSP00000514849.1:n.707-1829_707-1828delinsGT