Canonical Allele Identifier: CA2260761035

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 956423
• ClinVar RCV Id: RCV001229223
• dbSNP Id: rs2050859456

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045713_43045716dup , CM000679.2:g.43045713_43045716dup	GRCh38
NC_000017.10:g.41197730_41197733dup , CM000679.1:g.41197730_41197733dup	GRCh37
NC_000017.9:g.38451256_38451259dup	NCBI36
NG_005905.2:g.172272_172275dup , LRG_292:g.172272_172275dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5555_5558dup	ENSP00000417241.2:p.Ile1854ProfsTer26
ENST00000470026.6:c.5558_5561dup	ENSP00000419274.2:p.Ile1855ProfsTer26
ENST00000473961.6:c.5432_5435dup	ENSP00000420201.2:p.Ile1813ProfsTer26
ENST00000476777.6:c.5552_5555dup	ENSP00000417554.2:p.Ile1853ProfsTer26
ENST00000477152.6:c.5480_5483dup	ENSP00000419988.2:p.Ile1829ProfsTer26
ENST00000478531.6:c.2246_2249dup	ENSP00000420412.2:p.Ile751ProfsTer26
ENST00000489037.2:c.5480_5483dup	ENSP00000420781.2:p.Ile1829ProfsTer26
ENST00000493919.6:c.2108_2111dup	ENSP00000418819.2:p.Ile705ProfsTer26
ENST00000494123.6:c.5558_5561dup	ENSP00000419103.2:p.Ile1855ProfsTer26
ENST00000497488.2:c.4670_4673dup	ENSP00000418986.2:p.Ile1559ProfsTer26
ENST00000618469.2:c.5558_5561dup	ENSP00000478114.2:p.Ile1855ProfsTer26
ENST00000634433.2:c.5435_5438dup	ENSP00000489431.2:p.Ile1814ProfsTer26
ENST00000644379.2:c.5624_5627dup	ENSP00000496570.2:p.Ile1877ProfsTer26
ENST00000644555.2:c.2108_2111dup	ENSP00000494614.2:p.Ile705ProfsTer26
ENST00000652672.2:c.5417_5420dup	ENSP00000498906.2:p.Ile1808ProfsTer26
ENST00000484087.6:c.2120_2123dup	ENSP00000419481.2:p.Ile709ProfsTer26
ENST00000700081.1:n.1441_1444dup
ENST00000700082.1:n.922_925dup
ENST00000357654.9:c.5558_5561dup MANE Select	ENSP00000350283.3:p.Ile1855ProfsTer26
ENST00000471181.7:c.5621_5624dup	ENSP00000418960.2:p.Ile1876ProfsTer26
ENST00000644379.1:c.1945_1948dup
ENST00000352993.7:c.2132_2135dup	ENSP00000312236.5:p.Ile713ProfsTer26
ENST00000357654.7:c.5558_5561dup	ENSP00000350283.3:p.Ile1855ProfsTer26
ENST00000461221.5:c.*5341_*5344dup	ENSP00000418548.1:n.*5341_*5344dup
ENST00000468300.5:c.*72_*75dup	ENSP00000417148.1:n.*72_*75dup
ENST00000471181.6:c.5621_5624dup	ENSP00000418960.2:p.Ile1876ProfsTer26
ENST00000491747.6:c.2246_2249dup	ENSP00000420705.2:p.Ile751ProfsTer?
ENST00000493795.5:c.5417_5420dup	ENSP00000418775.1:p.Ile1808ProfsTer26
ENST00000586385.5:c.488_491dup	ENSP00000465818.1:p.Ile165ProfsTer26
ENST00000591534.5:c.1031_1034dup	ENSP00000467329.1:p.Ile346ProfsTer26
ENST00000591849.5:c.257_260dup	ENSP00000465347.1:p.Ile88ProfsTer26
NM_007294.3:c.5558_5561dup , LRG_292t1:c.5558_5561dup	NP_009225.1:p.Ile1855ProfsTer26
NM_007297.3:c.5417_5420dup	NP_009228.2:p.Ile1808ProfsTer26
NM_007298.3:c.2246_2249dup	NP_009229.2:p.Ile751ProfsTer26
NM_007299.3:c.*72_*75dup	NP_009230.2:n.*72_*75dup
NM_007300.3:c.5621_5624dup	NP_009231.2:p.Ile1876ProfsTer26
NR_027676.1:n.5694_5697dup
NM_007294.4:c.5558_5561dup MANE Select	NP_009225.1:p.Ile1855ProfsTer26
NM_007297.4:c.5417_5420dup	NP_009228.2:p.Ile1808ProfsTer26
NM_007299.4:c.*72_*75dup	NP_009230.2:n.*72_*75dup
NM_007300.4:c.5621_5624dup	NP_009231.2:p.Ile1876ProfsTer26
NR_027676.2:n.5735_5738dup