Canonical Allele Identifier: CA003156

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 254461
• ClinVar RCV Id: RCV000241367
• dbSNP Id: rs431825410
• MyVariant Identifiers: chr17:g.41219668_41219672del (hg19) ; chr17:g.43067651_43067655del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067652_43067656del , CM000679.2:g.43067652_43067656del	GRCh38
NC_000017.10:g.41219669_41219673del , CM000679.1:g.41219669_41219673del	GRCh37
NC_000017.9:g.38473195_38473199del	NCBI36
NG_005905.2:g.150329_150333del , LRG_292:g.150329_150333del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5024_5028del	ENSP00000417241.2:p.Leu1675Ter
ENST00000470026.6:c.5027_5031del	ENSP00000419274.2:p.Leu1676Ter
ENST00000473961.6:c.4901_4905del	ENSP00000420201.2:p.Leu1634Ter
ENST00000476777.6:c.5021_5025del	ENSP00000417554.2:p.Leu1674Ter
ENST00000477152.6:c.4949_4953del	ENSP00000419988.2:p.Leu1650Ter
ENST00000478531.6:c.1715_1719del	ENSP00000420412.2:p.Leu572Ter
ENST00000489037.2:c.4949_4953del	ENSP00000420781.2:p.Leu1650Ter
ENST00000493919.6:c.1577_1581del	ENSP00000418819.2:p.Leu526Ter
ENST00000494123.6:c.5027_5031del	ENSP00000419103.2:p.Leu1676Ter
ENST00000497488.2:c.4139_4143del	ENSP00000418986.2:p.Leu1380Ter
ENST00000618469.2:c.5027_5031del	ENSP00000478114.2:p.Leu1676Ter
ENST00000634433.2:c.4904_4908del	ENSP00000489431.2:p.Leu1635Ter
ENST00000644379.2:c.5093_5097del	ENSP00000496570.2:p.Leu1698Ter
ENST00000644555.2:c.1577_1581del	ENSP00000494614.2:p.Leu526Ter
ENST00000652672.2:c.4886_4890del	ENSP00000498906.2:p.Leu1629Ter
ENST00000484087.6:c.1589_1593del	ENSP00000419481.2:p.Leu530Ter
ENST00000357654.9:c.5027_5031del MANE Select	ENSP00000350283.3:p.Leu1676Ter
ENST00000471181.7:c.5090_5094del	ENSP00000418960.2:p.Leu1697Ter
ENST00000644379.1:c.1414_1418del
ENST00000352993.7:c.1601_1605del	ENSP00000312236.5:p.Leu534Ter
ENST00000357654.7:c.5027_5031del	ENSP00000350283.3:p.Leu1676Ter
ENST00000461221.5:c.*4810_*4814del	ENSP00000418548.1:n.*4810_*4814del
ENST00000468300.5:c.1715_1719del	ENSP00000417148.1:p.Leu572Ter
ENST00000471181.6:c.5090_5094del	ENSP00000418960.2:p.Leu1697Ter
ENST00000472490.1:n.180_184del
ENST00000478531.5:c.1715_1719del	ENSP00000420412.1:p.Leu572Ter
ENST00000484087.5:c.1340_1344del	ENSP00000419481.1:p.Leu447Ter
ENST00000491747.6:c.1715_1719del	ENSP00000420705.2:p.Leu572Ter
ENST00000493795.5:c.4886_4890del	ENSP00000418775.1:p.Leu1629Ter
ENST00000493919.5:c.1577_1581del	ENSP00000418819.1:p.Leu526Ter
ENST00000586385.5:c.5-3704_5-3700del	ENSP00000465818.1:n.5-3704_5-3700del
ENST00000591534.5:c.500_504del	ENSP00000467329.1:p.Leu167Ter
ENST00000591849.5:c.-98-17465_-98-17461del	ENSP00000465347.1:n.-98-17465_-98-17461del
NM_007294.3:c.5027_5031del , LRG_292t1:c.5027_5031del	NP_009225.1:p.Leu1676Ter
NM_007297.3:c.4886_4890del	NP_009228.2:p.Leu1629Ter
NM_007298.3:c.1715_1719del	NP_009229.2:p.Leu572Ter
NM_007299.3:c.1715_1719del	NP_009230.2:p.Leu572Ter
NM_007300.3:c.5090_5094del	NP_009231.2:p.Leu1697Ter
NR_027676.1:n.5163_5167del
NM_007294.4:c.5027_5031del MANE Select	NP_009225.1:p.Leu1676Ter
NM_007297.4:c.4886_4890del	NP_009228.2:p.Leu1629Ter
NM_007299.4:c.1715_1719del	NP_009230.2:p.Leu572Ter
NM_007300.4:c.5090_5094del	NP_009231.2:p.Leu1697Ter
NR_027676.2:n.5204_5208del