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Canonical Allele Identifier: CA001748
Community Standard Title: NM_007294.4(BRCA1):c.2670del (p.Ser891ProfsTer2)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092863del , CM000679.2:g.43092863del GRCh38
NC_000017.10:g.41244880del , CM000679.1:g.41244880del GRCh37
NC_000017.9:g.38498406del NCBI36
NG_005905.2:g.125123del , LRG_292:g.125123del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.2670del MANE Select NP_009225.1:p.Ser891ProfsTer2
ENST00000357654.9:c.2670del MANE Select ENSP00000350283.3:p.Ser891ProfsTer2
NM_007294.3:c.2670del , LRG_292t1:c.2670del NP_009225.1:p.Ser891ProfsTer2
NM_007297.3:c.2529del NP_009228.2:p.Ser844ProfsTer2
NM_007297.4:c.2529del NP_009228.2:p.Ser844ProfsTer2
NM_007298.3:c.788-1829del NP_009229.2:n.788-1829del
NM_007299.3:c.788-1829del NP_009230.2:n.788-1829del
NM_007299.4:c.788-1829del NP_009230.2:n.788-1829del
NM_007300.3:c.2670del NP_009231.2:p.Ser891ProfsTer2
NM_007300.4:c.2670del NP_009231.2:p.Ser891ProfsTer2
NR_027676.1:n.2806del
NR_027676.2:n.2847del
ENST00000352993.7:c.671-1829del ENSP00000312236.5:n.671-1829del
ENST00000354071.7:c.2670del ENSP00000326002.7:p.Ser891ProfsTer2
ENST00000354071.8:n.2734del
ENST00000357654.7:c.2670del ENSP00000350283.3:p.Ser891ProfsTer2
ENST00000461221.5:c.*2453del ENSP00000418548.1:n.*2453del
ENST00000461574.2:c.2670del ENSP00000417241.2:p.Ser891ProfsTer2
ENST00000468300.5:c.788-1829del ENSP00000417148.1:n.788-1829del
ENST00000470026.6:c.2670del ENSP00000419274.2:p.Ser891ProfsTer2
ENST00000471181.6:c.2670del ENSP00000418960.2:p.Ser891ProfsTer2
ENST00000471181.7:c.2670del ENSP00000418960.2:p.Ser891ProfsTer2
ENST00000473961.6:c.2544del ENSP00000420201.2:p.Ser849ProfsTer2
ENST00000476777.6:c.2667del ENSP00000417554.2:p.Ser890ProfsTer2
ENST00000477152.6:c.2592del ENSP00000419988.2:p.Ser865ProfsTer2
ENST00000478531.5:c.785-1829del ENSP00000420412.1:n.785-1829del
ENST00000478531.6:c.785-1829del ENSP00000420412.2:n.785-1829del
ENST00000484087.5:c.410-1829del ENSP00000419481.1:n.410-1829del
ENST00000484087.6:c.665-1829del ENSP00000419481.2:n.665-1829del
ENST00000487825.5:c.413-1829del ENSP00000418212.1:n.413-1829del
ENST00000489037.2:c.2592del ENSP00000420781.2:p.Ser865ProfsTer2
ENST00000491747.6:c.788-1829del ENSP00000420705.2:n.788-1829del
ENST00000493795.5:c.2529del ENSP00000418775.1:p.Ser844ProfsTer2
ENST00000493919.5:c.647-1829del ENSP00000418819.1:n.647-1829del
ENST00000493919.6:c.647-1829del ENSP00000418819.2:n.647-1829del
ENST00000494123.6:c.2670del ENSP00000419103.2:p.Ser891ProfsTer2
ENST00000497488.2:c.1782del ENSP00000418986.2:p.Ser595ProfsTer2
ENST00000586385.5:c.5-28910del ENSP00000465818.1:n.5-28910del
ENST00000591534.5:c.-43-18340del ENSP00000467329.1:n.-43-18340del
ENST00000591849.5:c.-99+32410del ENSP00000465347.1:n.-99+32410del
ENST00000618469.2:c.2670del ENSP00000478114.2:p.Ser891ProfsTer2
ENST00000634433.2:c.2547del ENSP00000489431.2:p.Ser850ProfsTer2
ENST00000644379.2:c.2670del ENSP00000496570.2:p.Ser891ProfsTer2
ENST00000644555.2:c.647-1829del ENSP00000494614.2:n.647-1829del
ENST00000652672.2:c.2529del ENSP00000498906.2:p.Ser844ProfsTer2
ENST00000700182.1:c.707-1829del ENSP00000514849.1:n.707-1829del