Canonical Allele Identifier: CA002069
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37512
ClinVar RCV Id: RCV000031093
dbSNP Id: rs397507210

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092358del , CM000679.2:g.43092358del GRCh38
NC_000017.10:g.41244375del , CM000679.1:g.41244375del GRCh37
NC_000017.9:g.38497901del NCBI36
NG_005905.2:g.125627del , LRG_292:g.125627del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3238del
ENST00000461574.2:c.3174del ENSP00000417241.2:p.Asn1059MetfsTer3
ENST00000470026.6:c.3174del ENSP00000419274.2:p.Asn1059MetfsTer3
ENST00000473961.6:c.3048del ENSP00000420201.2:p.Asn1017MetfsTer3
ENST00000476777.6:c.3171del ENSP00000417554.2:p.Asn1058MetfsTer3
ENST00000477152.6:c.3096del ENSP00000419988.2:p.Asn1033MetfsTer3
ENST00000478531.6:c.785-1325del ENSP00000420412.2:n.785-1325del
ENST00000489037.2:c.3096del ENSP00000420781.2:p.Asn1033MetfsTer3
ENST00000493919.6:c.647-1325del ENSP00000418819.2:n.647-1325del
ENST00000494123.6:c.3174del ENSP00000419103.2:p.Asn1059MetfsTer3
ENST00000497488.2:c.2286del ENSP00000418986.2:p.Asn763MetfsTer3
ENST00000618469.2:c.3174del ENSP00000478114.2:p.Asn1059MetfsTer3
ENST00000634433.2:c.3051del ENSP00000489431.2:p.Asn1018MetfsTer3
ENST00000644379.2:c.3174del ENSP00000496570.2:p.Asn1059MetfsTer3
ENST00000644555.2:c.647-1325del ENSP00000494614.2:n.647-1325del
ENST00000652672.2:c.3033del ENSP00000498906.2:p.Asn1012MetfsTer3
ENST00000484087.6:c.665-1325del ENSP00000419481.2:n.665-1325del
ENST00000700182.1:c.707-1325del ENSP00000514849.1:n.707-1325del
ENST00000357654.9:c.3174del MANE Select ENSP00000350283.3:p.Asn1059MetfsTer3
ENST00000471181.7:c.3174del ENSP00000418960.2:p.Asn1059MetfsTer3
ENST00000352993.7:c.671-1325del ENSP00000312236.5:n.671-1325del
ENST00000354071.7:c.3174del ENSP00000326002.7:p.Asn1059MetfsTer3
ENST00000357654.7:c.3174del ENSP00000350283.3:p.Asn1059MetfsTer3
ENST00000461221.5:c.*2957del ENSP00000418548.1:n.*2957del
ENST00000468300.5:c.788-1325del ENSP00000417148.1:n.788-1325del
ENST00000471181.6:c.3174del ENSP00000418960.2:p.Asn1059MetfsTer3
ENST00000478531.5:c.785-1325del ENSP00000420412.1:n.785-1325del
ENST00000484087.5:c.410-1325del ENSP00000419481.1:n.410-1325del
ENST00000487825.5:c.413-1325del ENSP00000418212.1:n.413-1325del
ENST00000491747.6:c.788-1325del ENSP00000420705.2:n.788-1325del
ENST00000493795.5:c.3033del ENSP00000418775.1:p.Asn1012MetfsTer3
ENST00000493919.5:c.647-1325del ENSP00000418819.1:n.647-1325del
ENST00000586385.5:c.5-28406del ENSP00000465818.1:n.5-28406del
ENST00000591534.5:c.-43-17836del ENSP00000467329.1:n.-43-17836del
ENST00000591849.5:c.-99+32914del ENSP00000465347.1:n.-99+32914del
NM_007294.3:c.3174del , LRG_292t1:c.3174del NP_009225.1:p.Asn1059MetfsTer3
NM_007297.3:c.3033del NP_009228.2:p.Asn1012MetfsTer3
NM_007298.3:c.788-1325del NP_009229.2:n.788-1325del
NM_007299.3:c.788-1325del NP_009230.2:n.788-1325del
NM_007300.3:c.3174del NP_009231.2:p.Asn1059MetfsTer3
NR_027676.1:n.3310del
NM_007294.4:c.3174del MANE Select NP_009225.1:p.Asn1059MetfsTer3
NM_007297.4:c.3033del NP_009228.2:p.Asn1012MetfsTer3
NM_007299.4:c.788-1325del NP_009230.2:n.788-1325del
NM_007300.4:c.3174del NP_009231.2:p.Asn1059MetfsTer3
NR_027676.2:n.3351del