Canonical Allele Identifier: CA915950101

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 825341
• ClinVar RCV Id: RCV001023362 ; RCV003461397
• dbSNP Id: rs1597830200

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070935_43070937del , CM000679.2:g.43070935_43070937del	GRCh38
NC_000017.10:g.41222952_41222954del , CM000679.1:g.41222952_41222954del	GRCh37
NC_000017.9:g.38476478_38476480del	NCBI36
NG_005905.2:g.147051_147053del , LRG_292:g.147051_147053del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4978_4980del	ENSP00000417241.2:p.Glu1660del
ENST00000470026.6:c.4981_4983del	ENSP00000419274.2:p.Glu1661del
ENST00000473961.6:c.4855_4857del	ENSP00000420201.2:p.Glu1619del
ENST00000476777.6:c.4975_4977del	ENSP00000417554.2:p.Glu1659del
ENST00000477152.6:c.4903_4905del	ENSP00000419988.2:p.Glu1635del
ENST00000478531.6:c.1669_1671del	ENSP00000420412.2:p.Glu557del
ENST00000489037.2:c.4903_4905del	ENSP00000420781.2:p.Glu1635del
ENST00000493919.6:c.1531_1533del	ENSP00000418819.2:p.Glu511del
ENST00000494123.6:c.4981_4983del	ENSP00000419103.2:p.Glu1661del
ENST00000497488.2:c.4093_4095del	ENSP00000418986.2:p.Glu1365del
ENST00000618469.2:c.4981_4983del	ENSP00000478114.2:p.Glu1661del
ENST00000634433.2:c.4858_4860del	ENSP00000489431.2:p.Glu1620del
ENST00000644379.2:c.5047_5049del	ENSP00000496570.2:p.Glu1683del
ENST00000644555.2:c.1531_1533del	ENSP00000494614.2:p.Glu511del
ENST00000652672.2:c.4840_4842del	ENSP00000498906.2:p.Glu1614del
ENST00000484087.6:c.1543_1545del	ENSP00000419481.2:p.Glu515del
ENST00000700182.1:c.1588_1590del	ENSP00000514849.1:p.Glu530del
ENST00000357654.9:c.4981_4983del MANE Select	ENSP00000350283.3:p.Glu1661del
ENST00000471181.7:c.5044_5046del	ENSP00000418960.2:p.Glu1682del
ENST00000644379.1:c.1368_1370del
ENST00000352993.7:c.1555_1557del	ENSP00000312236.5:p.Glu519del
ENST00000357654.7:c.4981_4983del	ENSP00000350283.3:p.Glu1661del
ENST00000461221.5:c.*4764_*4766del	ENSP00000418548.1:n.*4764_*4766del
ENST00000468300.5:c.1669_1671del	ENSP00000417148.1:p.Glu557del
ENST00000471181.6:c.5044_5046del	ENSP00000418960.2:p.Glu1682del
ENST00000472490.1:n.134_136del
ENST00000478531.5:c.1669_1671del	ENSP00000420412.1:p.Glu557del
ENST00000484087.5:c.1294_1296del	ENSP00000419481.1:p.Glu432del
ENST00000491747.6:c.1669_1671del	ENSP00000420705.2:p.Glu557del
ENST00000493795.5:c.4840_4842del	ENSP00000418775.1:p.Glu1614del
ENST00000493919.5:c.1531_1533del	ENSP00000418819.1:p.Glu511del
ENST00000586385.5:c.5-6982_5-6980del	ENSP00000465818.1:n.5-6982_5-6980del
ENST00000591534.5:c.454_456del	ENSP00000467329.1:p.Glu152del
ENST00000591849.5:c.-98-20743_-98-20741del	ENSP00000465347.1:n.-98-20743_-98-20741del
NM_007294.3:c.4981_4983del , LRG_292t1:c.4981_4983del	NP_009225.1:p.Glu1661del
NM_007297.3:c.4840_4842del	NP_009228.2:p.Glu1614del
NM_007298.3:c.1669_1671del	NP_009229.2:p.Glu557del
NM_007299.3:c.1669_1671del	NP_009230.2:p.Glu557del
NM_007300.3:c.5044_5046del	NP_009231.2:p.Glu1682del
NR_027676.1:n.5117_5119del
NM_007294.4:c.4981_4983del MANE Select	NP_009225.1:p.Glu1661del
NM_007297.4:c.4840_4842del	NP_009228.2:p.Glu1614del
NM_007299.4:c.1669_1671del	NP_009230.2:p.Glu557del
NM_007300.4:c.5044_5046del	NP_009231.2:p.Glu1682del
NR_027676.2:n.5158_5160del