Canonical Allele Identifier: CA919844185

Gene: BRCA1

Linked Data

• dbSNP Id: rs1567774594

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070984_43070985del , CM000679.2:g.43070984_43070985del	GRCh38
NC_000017.10:g.41223001_41223002del , CM000679.1:g.41223001_41223002del	GRCh37
NC_000017.9:g.38476527_38476528del	NCBI36
NG_005905.2:g.147000_147001del , LRG_292:g.147000_147001del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4927_4928del	ENSP00000417241.2:p.Glu1643LysfsTer?
ENST00000470026.6:c.4930_4931del	ENSP00000419274.2:p.Glu1644LysfsTer?
ENST00000473961.6:c.4804_4805del	ENSP00000420201.2:p.Glu1602LysfsTer?
ENST00000476777.6:c.4924_4925del	ENSP00000417554.2:p.Glu1642LysfsTer?
ENST00000477152.6:c.4852_4853del	ENSP00000419988.2:p.Glu1618LysfsTer?
ENST00000478531.6:c.1618_1619del	ENSP00000420412.2:p.Glu540LysfsTer?
ENST00000489037.2:c.4852_4853del	ENSP00000420781.2:p.Glu1618LysfsTer?
ENST00000493919.6:c.1480_1481del	ENSP00000418819.2:p.Glu494LysfsTer?
ENST00000494123.6:c.4930_4931del	ENSP00000419103.2:p.Glu1644LysfsTer?
ENST00000497488.2:c.4042_4043del	ENSP00000418986.2:p.Glu1348LysfsTer?
ENST00000618469.2:c.4930_4931del	ENSP00000478114.2:p.Glu1644LysfsTer?
ENST00000634433.2:c.4807_4808del	ENSP00000489431.2:p.Glu1603LysfsTer?
ENST00000644379.2:c.4996_4997del	ENSP00000496570.2:p.Glu1666LysfsTer?
ENST00000644555.2:c.1480_1481del	ENSP00000494614.2:p.Glu494LysfsTer?
ENST00000652672.2:c.4789_4790del	ENSP00000498906.2:p.Glu1597LysfsTer?
ENST00000484087.6:c.1492_1493del	ENSP00000419481.2:p.Glu498LysfsTer?
ENST00000700182.1:c.1537_1538del	ENSP00000514849.1:p.Glu513LysfsTer30
ENST00000357654.9:c.4930_4931del MANE Select	ENSP00000350283.3:p.Glu1644LysfsTer?
ENST00000471181.7:c.4993_4994del	ENSP00000418960.2:p.Glu1665LysfsTer?
ENST00000644379.1:c.1317_1318del
ENST00000352993.7:c.1504_1505del	ENSP00000312236.5:p.Glu502LysfsTer?
ENST00000357654.7:c.4930_4931del	ENSP00000350283.3:p.Glu1644LysfsTer?
ENST00000461221.5:c.*4713_*4714del	ENSP00000418548.1:n.*4713_*4714del
ENST00000468300.5:c.1618_1619del	ENSP00000417148.1:p.Glu540LysfsTer?
ENST00000471181.6:c.4993_4994del	ENSP00000418960.2:p.Glu1665LysfsTer?
ENST00000472490.1:n.83_84del
ENST00000478531.5:c.1618_1619del	ENSP00000420412.1:p.Glu540LysfsTer?
ENST00000484087.5:c.1243_1244del	ENSP00000419481.1:p.Glu415LysfsTer?
ENST00000491747.6:c.1618_1619del	ENSP00000420705.2:p.Glu540LysfsTer?
ENST00000493795.5:c.4789_4790del	ENSP00000418775.1:p.Glu1597LysfsTer?
ENST00000493919.5:c.1480_1481del	ENSP00000418819.1:p.Glu494LysfsTer?
ENST00000586385.5:c.5-7033_5-7032del	ENSP00000465818.1:n.5-7033_5-7032del
ENST00000591534.5:c.403_404del	ENSP00000467329.1:p.Glu135LysfsTer?
ENST00000591849.5:c.-98-20794_-98-20793del	ENSP00000465347.1:n.-98-20794_-98-20793de...
NM_007294.3:c.4930_4931del , LRG_292t1:c.4930_4931del	NP_009225.1:p.Glu1644LysfsTer?
NM_007297.3:c.4789_4790del	NP_009228.2:p.Glu1597LysfsTer?
NM_007298.3:c.1618_1619del	NP_009229.2:p.Glu540LysfsTer?
NM_007299.3:c.1618_1619del	NP_009230.2:p.Glu540LysfsTer?
NM_007300.3:c.4993_4994del	NP_009231.2:p.Glu1665LysfsTer?
NR_027676.1:n.5066_5067del
NM_007294.4:c.4930_4931del MANE Select	NP_009225.1:p.Glu1644LysfsTer?
NM_007297.4:c.4789_4790del	NP_009228.2:p.Glu1597LysfsTer?
NM_007299.4:c.1618_1619del	NP_009230.2:p.Glu540LysfsTer?
NM_007300.4:c.4993_4994del	NP_009231.2:p.Glu1665LysfsTer?
NR_027676.2:n.5107_5108del