Canonical Allele Identifier: CA658798061

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 531396
• ClinVar RCV Id: RCV000637716 ; RCV000657308
• dbSNP Id: rs1555576959
• MyVariant Identifiers: chr17:g.41209134_41209135del (hg19) ; chr17:g.43057117_43057118del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057119_43057120del , CM000679.2:g.43057119_43057120del	GRCh38
NC_000017.10:g.41209136_41209137del , CM000679.1:g.41209136_41209137del	GRCh37
NC_000017.9:g.38462662_38462663del	NCBI36
NG_005905.2:g.160866_160867del , LRG_292:g.160866_160867del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5208_5209del	ENSP00000417241.2:p.Gly1737ArgfsTer?
ENST00000470026.6:c.5211_5212del	ENSP00000419274.2:p.Gly1738ArgfsTer?
ENST00000473961.6:c.5085_5086del	ENSP00000420201.2:p.Gly1696ArgfsTer?
ENST00000476777.6:c.5205_5206del	ENSP00000417554.2:p.Gly1736ArgfsTer?
ENST00000477152.6:c.5133_5134del	ENSP00000419988.2:p.Gly1712ArgfsTer?
ENST00000478531.6:c.1899_1900del	ENSP00000420412.2:p.Gly634ArgfsTer?
ENST00000489037.2:c.5133_5134del	ENSP00000420781.2:p.Gly1712ArgfsTer?
ENST00000493919.6:c.1761_1762del	ENSP00000418819.2:p.Gly588ArgfsTer?
ENST00000494123.6:c.5211_5212del	ENSP00000419103.2:p.Gly1738ArgfsTer?
ENST00000497488.2:c.4323_4324del	ENSP00000418986.2:p.Gly1442ArgfsTer?
ENST00000618469.2:c.5211_5212del	ENSP00000478114.2:p.Gly1738ArgfsTer?
ENST00000634433.2:c.5088_5089del	ENSP00000489431.2:p.Gly1697ArgfsTer?
ENST00000644379.2:c.5277_5278del	ENSP00000496570.2:p.Gly1760ArgfsTer?
ENST00000644555.2:c.1761_1762del	ENSP00000494614.2:p.Gly588ArgfsTer?
ENST00000652672.2:c.5070_5071del	ENSP00000498906.2:p.Gly1691ArgfsTer?
ENST00000484087.6:c.1773_1774del	ENSP00000419481.2:p.Gly592ArgfsTer?
ENST00000357654.9:c.5211_5212del MANE Select	ENSP00000350283.3:p.Gly1738ArgfsTer?
ENST00000471181.7:c.5274_5275del	ENSP00000418960.2:p.Gly1759ArgfsTer?
ENST00000644379.1:c.1598_1599del
ENST00000352993.7:c.1785_1786del	ENSP00000312236.5:p.Gly596ArgfsTer?
ENST00000357654.7:c.5211_5212del	ENSP00000350283.3:p.Gly1738ArgfsTer?
ENST00000461221.5:c.*4994_*4995del	ENSP00000418548.1:n.*4994_*4995del
ENST00000468300.5:c.1899_1900del	ENSP00000417148.1:p.Gly634ArgfsTer?
ENST00000471181.6:c.5274_5275del	ENSP00000418960.2:p.Gly1759ArgfsTer?
ENST00000491747.6:c.1899_1900del	ENSP00000420705.2:p.Gly634ArgfsTer?
ENST00000493795.5:c.5070_5071del	ENSP00000418775.1:p.Gly1691ArgfsTer?
ENST00000586385.5:c.141_142del	ENSP00000465818.1:p.Gly48ArgfsTer?
ENST00000591534.5:c.684_685del	ENSP00000467329.1:p.Gly229ArgfsTer?
ENST00000591849.5:c.-98-6928_-98-6927del	ENSP00000465347.1:n.-98-6928_-98-6927del
NM_007294.3:c.5211_5212del , LRG_292t1:c.5211_5212del	NP_009225.1:p.Gly1738ArgfsTer?
NM_007297.3:c.5070_5071del	NP_009228.2:p.Gly1691ArgfsTer?
NM_007298.3:c.1899_1900del	NP_009229.2:p.Gly634ArgfsTer?
NM_007299.3:c.1899_1900del	NP_009230.2:p.Gly634ArgfsTer?
NM_007300.3:c.5274_5275del	NP_009231.2:p.Gly1759ArgfsTer?
NR_027676.1:n.5347_5348del
NM_007294.4:c.5211_5212del MANE Select	NP_009225.1:p.Gly1738ArgfsTer?
NM_007297.4:c.5070_5071del	NP_009228.2:p.Gly1691ArgfsTer?
NM_007299.4:c.1899_1900del	NP_009230.2:p.Gly634ArgfsTer?
NM_007300.4:c.5274_5275del	NP_009231.2:p.Gly1759ArgfsTer?
NR_027676.2:n.5388_5389del