Canonical Allele Identifier: CA2739265610

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2819809
• ClinVar RCV Id: RCV003645634

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047656_43047660del , CM000679.2:g.43047656_43047660del	GRCh38
NC_000017.10:g.41199673_41199677del , CM000679.1:g.41199673_41199677del	GRCh37
NC_000017.9:g.38453199_38453203del	NCBI36
NG_005905.2:g.170325_170329del , LRG_292:g.170325_170329del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5448_5452del	ENSP00000417241.2:p.Asp1817TrpfsTer10
ENST00000470026.6:c.5451_5455del	ENSP00000419274.2:p.Asp1818TrpfsTer10
ENST00000473961.6:c.5325_5329del	ENSP00000420201.2:p.Asp1776TrpfsTer10
ENST00000476777.6:c.5445_5449del	ENSP00000417554.2:p.Asp1816TrpfsTer10
ENST00000477152.6:c.5373_5377del	ENSP00000419988.2:p.Asp1792TrpfsTer10
ENST00000478531.6:c.2139_2143del	ENSP00000420412.2:p.Asp714TrpfsTer10
ENST00000489037.2:c.5373_5377del	ENSP00000420781.2:p.Asp1792TrpfsTer10
ENST00000493919.6:c.2001_2005del	ENSP00000418819.2:p.Asp668TrpfsTer10
ENST00000494123.6:c.5451_5455del	ENSP00000419103.2:p.Asp1818TrpfsTer10
ENST00000497488.2:c.4563_4567del	ENSP00000418986.2:p.Asp1522TrpfsTer10
ENST00000618469.2:c.5451_5455del	ENSP00000478114.2:p.Asp1818TrpfsTer10
ENST00000634433.2:c.5328_5332del	ENSP00000489431.2:p.Asp1777TrpfsTer10
ENST00000644379.2:c.5517_5521del	ENSP00000496570.2:p.Asp1840TrpfsTer10
ENST00000644555.2:c.2001_2005del	ENSP00000494614.2:p.Asp668TrpfsTer10
ENST00000652672.2:c.5310_5314del	ENSP00000498906.2:p.Asp1771TrpfsTer10
ENST00000484087.6:c.2013_2017del	ENSP00000419481.2:p.Asp672TrpfsTer10
ENST00000700081.1:n.1334_1338del
ENST00000700082.1:n.815_819del
ENST00000357654.9:c.5451_5455del MANE Select	ENSP00000350283.3:p.Asp1818TrpfsTer10
ENST00000471181.7:c.5514_5518del	ENSP00000418960.2:p.Asp1839TrpfsTer10
ENST00000644379.1:c.1838_1842del
ENST00000352993.7:c.2025_2029del	ENSP00000312236.5:p.Asp676TrpfsTer10
ENST00000357654.7:c.5451_5455del	ENSP00000350283.3:p.Asp1818TrpfsTer10
ENST00000461221.5:c.*5234_*5238del	ENSP00000418548.1:n.*5234_*5238del
ENST00000468300.5:c.2065_2069del	ENSP00000417148.1:p.Gly689MetfsTer15
ENST00000471181.6:c.5514_5518del	ENSP00000418960.2:p.Asp1839TrpfsTer10
ENST00000491747.6:c.2139_2143del	ENSP00000420705.2:p.Asp714TrpfsTer10
ENST00000493795.5:c.5310_5314del	ENSP00000418775.1:p.Asp1771TrpfsTer10
ENST00000586385.5:c.381_385del	ENSP00000465818.1:p.Asp128TrpfsTer10
ENST00000591534.5:c.924_928del	ENSP00000467329.1:p.Asp309TrpfsTer10
ENST00000591849.5:c.150_154del	ENSP00000465347.1:p.Asp51TrpfsTer10
NM_007294.3:c.5451_5455del , LRG_292t1:c.5451_5455del	NP_009225.1:p.Asp1818TrpfsTer10
NM_007297.3:c.5310_5314del	NP_009228.2:p.Asp1771TrpfsTer10
NM_007298.3:c.2139_2143del	NP_009229.2:p.Asp714TrpfsTer10
NM_007299.3:c.2065_2069del	NP_009230.2:p.Gly689MetfsTer15
NM_007300.3:c.5514_5518del	NP_009231.2:p.Asp1839TrpfsTer10
NR_027676.1:n.5587_5591del
NM_007294.4:c.5451_5455del MANE Select	NP_009225.1:p.Asp1818TrpfsTer10
NM_007297.4:c.5310_5314del	NP_009228.2:p.Asp1771TrpfsTer10
NM_007299.4:c.2065_2069del	NP_009230.2:p.Gly689MetfsTer15
NM_007300.4:c.5514_5518del	NP_009231.2:p.Asp1839TrpfsTer10
NR_027676.2:n.5628_5632del