Canonical Allele Identifier: CA2573154087
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1459729
dbSNP Id: rs2154338498

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092354_43092355del , CM000679.2:g.43092354_43092355del GRCh38
NC_000017.10:g.41244371_41244372del , CM000679.1:g.41244371_41244372del GRCh37
NC_000017.9:g.38497897_38497898del NCBI36
NG_005905.2:g.125629_125630del , LRG_292:g.125629_125630del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3240_3241del
ENST00000461574.2:c.3176_3177del ENSP00000417241.2:p.Asn1059ArgfsTer6
ENST00000470026.6:c.3176_3177del ENSP00000419274.2:p.Asn1059ArgfsTer6
ENST00000473961.6:c.3050_3051del ENSP00000420201.2:p.Asn1017ArgfsTer6
ENST00000476777.6:c.3173_3174del ENSP00000417554.2:p.Asn1058ArgfsTer6
ENST00000477152.6:c.3098_3099del ENSP00000419988.2:p.Asn1033ArgfsTer6
ENST00000478531.6:c.785-1323_785-1322del ENSP00000420412.2:n.785-1323_785-1322del
ENST00000489037.2:c.3098_3099del ENSP00000420781.2:p.Asn1033ArgfsTer6
ENST00000493919.6:c.647-1323_647-1322del ENSP00000418819.2:n.647-1323_647-1322del
ENST00000494123.6:c.3176_3177del ENSP00000419103.2:p.Asn1059ArgfsTer6
ENST00000497488.2:c.2288_2289del ENSP00000418986.2:p.Asn763ArgfsTer6
ENST00000618469.2:c.3176_3177del ENSP00000478114.2:p.Asn1059ArgfsTer6
ENST00000634433.2:c.3053_3054del ENSP00000489431.2:p.Asn1018ArgfsTer6
ENST00000644379.2:c.3176_3177del ENSP00000496570.2:p.Asn1059ArgfsTer6
ENST00000644555.2:c.647-1323_647-1322del ENSP00000494614.2:n.647-1323_647-1322del
ENST00000652672.2:c.3035_3036del ENSP00000498906.2:p.Asn1012ArgfsTer6
ENST00000484087.6:c.665-1323_665-1322del ENSP00000419481.2:n.665-1323_665-1322del
ENST00000700182.1:c.707-1323_707-1322del ENSP00000514849.1:n.707-1323_707-1322del
ENST00000357654.9:c.3176_3177del MANE Select ENSP00000350283.3:p.Asn1059ArgfsTer6
ENST00000471181.7:c.3176_3177del ENSP00000418960.2:p.Asn1059ArgfsTer6
ENST00000352993.7:c.671-1323_671-1322del ENSP00000312236.5:n.671-1323_671-1322del
ENST00000354071.7:c.3176_3177del ENSP00000326002.7:p.Asn1059ArgfsTer6
ENST00000357654.7:c.3176_3177del ENSP00000350283.3:p.Asn1059ArgfsTer6
ENST00000461221.5:c.*2959_*2960del ENSP00000418548.1:n.*2959_*2960del
ENST00000468300.5:c.788-1323_788-1322del ENSP00000417148.1:n.788-1323_788-1322del
ENST00000471181.6:c.3176_3177del ENSP00000418960.2:p.Asn1059ArgfsTer6
ENST00000478531.5:c.785-1323_785-1322del ENSP00000420412.1:n.785-1323_785-1322del
ENST00000484087.5:c.410-1323_410-1322del ENSP00000419481.1:n.410-1323_410-1322del
ENST00000487825.5:c.413-1323_413-1322del ENSP00000418212.1:n.413-1323_413-1322del
ENST00000491747.6:c.788-1323_788-1322del ENSP00000420705.2:n.788-1323_788-1322del
ENST00000493795.5:c.3035_3036del ENSP00000418775.1:p.Asn1012ArgfsTer6
ENST00000493919.5:c.647-1323_647-1322del ENSP00000418819.1:n.647-1323_647-1322del
ENST00000586385.5:c.5-28404_5-28403del ENSP00000465818.1:n.5-28404_5-28403del
ENST00000591534.5:c.-43-17834_-43-17833del ENSP00000467329.1:n.-43-17834_-43-17833del
ENST00000591849.5:c.-99+32916_-99+32917del ENSP00000465347.1:n.-99+32916_-99+32917del
NM_007294.3:c.3176_3177del , LRG_292t1:c.3176_3177del NP_009225.1:p.Asn1059ArgfsTer6
NM_007297.3:c.3035_3036del NP_009228.2:p.Asn1012ArgfsTer6
NM_007298.3:c.788-1323_788-1322del NP_009229.2:n.788-1323_788-1322del
NM_007299.3:c.788-1323_788-1322del NP_009230.2:n.788-1323_788-1322del
NM_007300.3:c.3176_3177del NP_009231.2:p.Asn1059ArgfsTer6
NR_027676.1:n.3312_3313del
NM_007294.4:c.3176_3177del MANE Select NP_009225.1:p.Asn1059ArgfsTer6
NM_007297.4:c.3035_3036del NP_009228.2:p.Asn1012ArgfsTer6
NM_007299.4:c.788-1323_788-1322del NP_009230.2:n.788-1323_788-1322del
NM_007300.4:c.3176_3177del NP_009231.2:p.Asn1059ArgfsTer6
NR_027676.2:n.3353_3354del