Canonical Allele Identifier: CA2580093817

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2025101
• ClinVar RCV Id: RCV002848188

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082558_43082559del , CM000679.2:g.43082558_43082559del	GRCh38
NC_000017.10:g.41234575_41234576del , CM000679.1:g.41234575_41234576del	GRCh37
NC_000017.9:g.38488101_38488102del	NCBI36
NG_005905.2:g.135425_135426del , LRG_292:g.135425_135426del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4202_4203del	ENSP00000417241.2:p.Gln1401ProfsTer2
ENST00000470026.6:c.4202_4203del	ENSP00000419274.2:p.Gln1401ProfsTer2
ENST00000473961.6:c.4076_4077del	ENSP00000420201.2:p.Gln1359ProfsTer2
ENST00000476777.6:c.4196_4197del	ENSP00000417554.2:p.Gln1399ProfsTer2
ENST00000477152.6:c.4124_4125del	ENSP00000419988.2:p.Gln1375ProfsTer2
ENST00000478531.6:c.890_891del	ENSP00000420412.2:p.Gln297ProfsTer2
ENST00000489037.2:c.4124_4125del	ENSP00000420781.2:p.Gln1375ProfsTer2
ENST00000493919.6:c.752_753del	ENSP00000418819.2:p.Gln251ProfsTer2
ENST00000494123.6:c.4202_4203del	ENSP00000419103.2:p.Gln1401ProfsTer2
ENST00000497488.2:c.3314_3315del	ENSP00000418986.2:p.Gln1105ProfsTer2
ENST00000618469.2:c.4202_4203del	ENSP00000478114.2:p.Gln1401ProfsTer2
ENST00000634433.2:c.4079_4080del	ENSP00000489431.2:p.Gln1360ProfsTer2
ENST00000644379.2:c.4202_4203del	ENSP00000496570.2:p.Gln1401ProfsTer2
ENST00000644555.2:c.752_753del	ENSP00000494614.2:p.Gln251ProfsTer2
ENST00000652672.2:c.4061_4062del	ENSP00000498906.2:p.Gln1354ProfsTer2
ENST00000484087.6:c.767_768del	ENSP00000419481.2:p.Gln256ProfsTer2
ENST00000700182.1:c.812_813del	ENSP00000514849.1:p.Gln271ProfsTer2
ENST00000357654.9:c.4202_4203del MANE Select	ENSP00000350283.3:p.Gln1401ProfsTer2
ENST00000471181.7:c.4202_4203del	ENSP00000418960.2:p.Gln1401ProfsTer2
ENST00000644379.1:c.523_524del
ENST00000352993.7:c.776_777del	ENSP00000312236.5:p.Gln259ProfsTer2
ENST00000357654.7:c.4202_4203del	ENSP00000350283.3:p.Gln1401ProfsTer2
ENST00000461221.5:c.*3985_*3986del	ENSP00000418548.1:n.*3985_*3986del
ENST00000461574.1:c.496_497del
ENST00000468300.5:c.893_894del	ENSP00000417148.1:p.Gln298ProfsTer2
ENST00000471181.6:c.4202_4203del	ENSP00000418960.2:p.Gln1401ProfsTer2
ENST00000478531.5:c.890_891del	ENSP00000420412.1:p.Gln297ProfsTer2
ENST00000484087.5:c.515_516del	ENSP00000419481.1:p.Gln172ProfsTer2
ENST00000487825.5:c.518_519del	ENSP00000418212.1:p.Gln173ProfsTer2
ENST00000491747.6:c.893_894del	ENSP00000420705.2:p.Gln298ProfsTer2
ENST00000493795.5:c.4061_4062del	ENSP00000418775.1:p.Gln1354ProfsTer2
ENST00000493919.5:c.752_753del	ENSP00000418819.1:p.Gln251ProfsTer2
ENST00000586385.5:c.5-18608_5-18607del	ENSP00000465818.1:n.5-18608_5-18607del
ENST00000591534.5:c.-43-8038_-43-8037del	ENSP00000467329.1:n.-43-8038_-43-8037del
ENST00000591849.5:c.-98-32369_-98-32368del	ENSP00000465347.1:n.-98-32369_-98-32368del
ENST00000621897.1:n.96_97del
NM_007294.3:c.4202_4203del , LRG_292t1:c.4202_4203del	NP_009225.1:p.Gln1401ProfsTer2
NM_007297.3:c.4061_4062del	NP_009228.2:p.Gln1354ProfsTer2
NM_007298.3:c.893_894del	NP_009229.2:p.Gln298ProfsTer2
NM_007299.3:c.893_894del	NP_009230.2:p.Gln298ProfsTer2
NM_007300.3:c.4202_4203del	NP_009231.2:p.Gln1401ProfsTer2
NR_027676.1:n.4338_4339del
NM_007294.4:c.4202_4203del MANE Select	NP_009225.1:p.Gln1401ProfsTer2
NM_007297.4:c.4061_4062del	NP_009228.2:p.Gln1354ProfsTer2
NM_007299.4:c.893_894del	NP_009230.2:p.Gln298ProfsTer2
NM_007300.4:c.4202_4203del	NP_009231.2:p.Gln1401ProfsTer2
NR_027676.2:n.4379_4380del