Canonical Allele Identifier: CA003372

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057099_43057100del , CM000679.2:g.43057099_43057100del	GRCh38
NC_000017.10:g.41209116_41209117del , CM000679.1:g.41209116_41209117del	GRCh37
NC_000017.9:g.38462642_38462643del	NCBI36
NG_005905.2:g.160884_160885del , LRG_292:g.160884_160885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5226_5227del	ENSP00000417241.2:p.Arg1743LysfsTer?
ENST00000470026.6:c.5229_5230del	ENSP00000419274.2:p.Arg1744LysfsTer?
ENST00000473961.6:c.5103_5104del	ENSP00000420201.2:p.Arg1702LysfsTer?
ENST00000476777.6:c.5223_5224del	ENSP00000417554.2:p.Arg1742LysfsTer?
ENST00000477152.6:c.5151_5152del	ENSP00000419988.2:p.Arg1718LysfsTer?
ENST00000478531.6:c.1917_1918del	ENSP00000420412.2:p.Arg640LysfsTer?
ENST00000489037.2:c.5151_5152del	ENSP00000420781.2:p.Arg1718LysfsTer?
ENST00000493919.6:c.1779_1780del	ENSP00000418819.2:p.Arg594LysfsTer?
ENST00000494123.6:c.5229_5230del	ENSP00000419103.2:p.Arg1744LysfsTer?
ENST00000497488.2:c.4341_4342del	ENSP00000418986.2:p.Arg1448LysfsTer?
ENST00000618469.2:c.5229_5230del	ENSP00000478114.2:p.Arg1744LysfsTer?
ENST00000634433.2:c.5106_5107del	ENSP00000489431.2:p.Arg1703LysfsTer?
ENST00000644379.2:c.5295_5296del	ENSP00000496570.2:p.Arg1766LysfsTer?
ENST00000644555.2:c.1779_1780del	ENSP00000494614.2:p.Arg594LysfsTer?
ENST00000652672.2:c.5088_5089del	ENSP00000498906.2:p.Arg1697LysfsTer?
ENST00000484087.6:c.1791_1792del	ENSP00000419481.2:p.Arg598LysfsTer?
ENST00000357654.9:c.5229_5230del MANE Select	ENSP00000350283.3:p.Arg1744LysfsTer?
ENST00000471181.7:c.5292_5293del	ENSP00000418960.2:p.Arg1765LysfsTer?
ENST00000644379.1:c.1616_1617del
ENST00000352993.7:c.1803_1804del	ENSP00000312236.5:p.Arg602LysfsTer?
ENST00000357654.7:c.5229_5230del	ENSP00000350283.3:p.Arg1744LysfsTer?
ENST00000461221.5:c.*5012_*5013del	ENSP00000418548.1:n.*5012_*5013del
ENST00000468300.5:c.1917_1918del	ENSP00000417148.1:p.Arg640LysfsTer?
ENST00000471181.6:c.5292_5293del	ENSP00000418960.2:p.Arg1765LysfsTer?
ENST00000491747.6:c.1917_1918del	ENSP00000420705.2:p.Arg640LysfsTer?
ENST00000493795.5:c.5088_5089del	ENSP00000418775.1:p.Arg1697LysfsTer?
ENST00000586385.5:c.159_160del	ENSP00000465818.1:p.Arg54LysfsTer?
ENST00000591534.5:c.702_703del	ENSP00000467329.1:p.Arg235LysfsTer?
ENST00000591849.5:c.-98-6910_-98-6909del	ENSP00000465347.1:n.-98-6910_-98-6909del
NM_007294.3:c.5229_5230del , LRG_292t1:c.5229_5230del	NP_009225.1:p.Arg1744LysfsTer?
NM_007297.3:c.5088_5089del	NP_009228.2:p.Arg1697LysfsTer?
NM_007298.3:c.1917_1918del	NP_009229.2:p.Arg640LysfsTer?
NM_007299.3:c.1917_1918del	NP_009230.2:p.Arg640LysfsTer?
NM_007300.3:c.5292_5293del	NP_009231.2:p.Arg1765LysfsTer?
NR_027676.1:n.5365_5366del
NM_007294.4:c.5229_5230del MANE Select	NP_009225.1:p.Arg1744LysfsTer?
NM_007297.4:c.5088_5089del	NP_009228.2:p.Arg1697LysfsTer?
NM_007299.4:c.1917_1918del	NP_009230.2:p.Arg640LysfsTer?
NM_007300.4:c.5292_5293del	NP_009231.2:p.Arg1765LysfsTer?
NR_027676.2:n.5406_5407del