Canonical Allele Identifier: CA10580512
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 231678
ClinVar RCV Id: RCV003644941
dbSNP Id: rs876659293

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43074337_43074356del , CM000679.2:g.43074337_43074356del GRCh38
NC_000017.10:g.41226354_41226373del , CM000679.1:g.41226354_41226373del GRCh37
NC_000017.9:g.38479880_38479899del NCBI36
NG_005905.2:g.143632_143651del , LRG_292:g.143632_143651del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4651_4670del ENSP00000417241.2:p.Tyr1551ArgfsTer15
ENST00000470026.6:c.4654_4673del ENSP00000419274.2:p.Tyr1552ArgfsTer15
ENST00000473961.6:c.4528_4547del ENSP00000420201.2:p.Tyr1510ArgfsTer15
ENST00000476777.6:c.4648_4667del ENSP00000417554.2:p.Tyr1550ArgfsTer15
ENST00000477152.6:c.4576_4595del ENSP00000419988.2:p.Tyr1526ArgfsTer15
ENST00000478531.6:c.1342_1361del ENSP00000420412.2:p.Tyr448ArgfsTer15
ENST00000489037.2:c.4576_4595del ENSP00000420781.2:p.Tyr1526ArgfsTer15
ENST00000493919.6:c.1204_1223del ENSP00000418819.2:p.Tyr402ArgfsTer15
ENST00000494123.6:c.4654_4673del ENSP00000419103.2:p.Tyr1552ArgfsTer15
ENST00000497488.2:c.3766_3785del ENSP00000418986.2:p.Tyr1256ArgfsTer15
ENST00000618469.2:c.4654_4673del ENSP00000478114.2:p.Tyr1552ArgfsTer15
ENST00000634433.2:c.4531_4550del ENSP00000489431.2:p.Tyr1511ArgfsTer15
ENST00000644379.2:c.4720_4739del ENSP00000496570.2:p.Tyr1574ArgfsTer15
ENST00000644555.2:c.1204_1223del ENSP00000494614.2:p.Tyr402ArgfsTer15
ENST00000652672.2:c.4513_4532del ENSP00000498906.2:p.Tyr1505ArgfsTer15
ENST00000484087.6:c.1216_1235del ENSP00000419481.2:p.Tyr406ArgfsTer15
ENST00000700182.1:c.1261_1280del ENSP00000514849.1:p.Tyr421ArgfsTer15
ENST00000357654.9:c.4654_4673del MANE Select ENSP00000350283.3:p.Tyr1552ArgfsTer15
ENST00000471181.7:c.4717_4736del ENSP00000418960.2:p.Tyr1573ArgfsTer15
ENST00000644379.1:c.1041_1060del
ENST00000352993.7:c.1228_1247del ENSP00000312236.5:p.Tyr410ArgfsTer15
ENST00000357654.7:c.4654_4673del ENSP00000350283.3:p.Tyr1552ArgfsTer15
ENST00000461221.5:c.*4437_*4456del ENSP00000418548.1:n.*4437_*4456del
ENST00000468300.5:c.1342_1361del ENSP00000417148.1:p.Tyr448ArgfsTer15
ENST00000471181.6:c.4717_4736del ENSP00000418960.2:p.Tyr1573ArgfsTer15
ENST00000478531.5:c.1342_1361del ENSP00000420412.1:p.Tyr448ArgfsTer15
ENST00000484087.5:c.967_986del ENSP00000419481.1:p.Tyr323ArgfsTer15
ENST00000491747.6:c.1342_1361del ENSP00000420705.2:p.Tyr448ArgfsTer15
ENST00000493795.5:c.4513_4532del ENSP00000418775.1:p.Tyr1505ArgfsTer15
ENST00000493919.5:c.1204_1223del ENSP00000418819.1:p.Tyr402ArgfsTer15
ENST00000586385.5:c.5-10401_5-10382del ENSP00000465818.1:n.5-10401_5-10382del
ENST00000591534.5:c.127_146del ENSP00000467329.1:p.Tyr43ArgfsTer15
ENST00000591849.5:c.-98-24162_-98-24143del ENSP00000465347.1:n.-98-24162_-98-24143de...
NM_007294.3:c.4654_4673del , LRG_292t1:c.4654_4673del NP_009225.1:p.Tyr1552ArgfsTer15
NM_007297.3:c.4513_4532del NP_009228.2:p.Tyr1505ArgfsTer15
NM_007298.3:c.1342_1361del NP_009229.2:p.Tyr448ArgfsTer15
NM_007299.3:c.1342_1361del NP_009230.2:p.Tyr448ArgfsTer15
NM_007300.3:c.4717_4736del NP_009231.2:p.Tyr1573ArgfsTer15
NR_027676.1:n.4790_4809del
NM_007294.4:c.4654_4673del MANE Select NP_009225.1:p.Tyr1552ArgfsTer15
NM_007297.4:c.4513_4532del NP_009228.2:p.Tyr1505ArgfsTer15
NM_007299.4:c.1342_1361del NP_009230.2:p.Tyr448ArgfsTer15
NM_007300.4:c.4717_4736del NP_009231.2:p.Tyr1573ArgfsTer15
NR_027676.2:n.4831_4850del