Canonical Allele Identifier: CA001959
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54747
dbSNP Id: rs80357617

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092523_43092524del , CM000679.2:g.43092523_43092524del GRCh38
NC_000017.10:g.41244540_41244541del , CM000679.1:g.41244540_41244541del GRCh37
NC_000017.9:g.38498066_38498067del NCBI36
NG_005905.2:g.125461_125462del , LRG_292:g.125461_125462del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3072_3073del
ENST00000461574.2:c.3008_3009del ENSP00000417241.2:p.Phe1003Ter
ENST00000470026.6:c.3008_3009del ENSP00000419274.2:p.Phe1003Ter
ENST00000473961.6:c.2882_2883del ENSP00000420201.2:p.Phe961Ter
ENST00000476777.6:c.3005_3006del ENSP00000417554.2:p.Phe1002Ter
ENST00000477152.6:c.2930_2931del ENSP00000419988.2:p.Phe977Ter
ENST00000478531.6:c.785-1491_785-1490del ENSP00000420412.2:n.785-1491_785-1490del
ENST00000489037.2:c.2930_2931del ENSP00000420781.2:p.Phe977Ter
ENST00000493919.6:c.647-1491_647-1490del ENSP00000418819.2:n.647-1491_647-1490del
ENST00000494123.6:c.3008_3009del ENSP00000419103.2:p.Phe1003Ter
ENST00000497488.2:c.2120_2121del ENSP00000418986.2:p.Phe707Ter
ENST00000618469.2:c.3008_3009del ENSP00000478114.2:p.Phe1003Ter
ENST00000634433.2:c.2885_2886del ENSP00000489431.2:p.Phe962Ter
ENST00000644379.2:c.3008_3009del ENSP00000496570.2:p.Phe1003Ter
ENST00000644555.2:c.647-1491_647-1490del ENSP00000494614.2:n.647-1491_647-1490del
ENST00000652672.2:c.2867_2868del ENSP00000498906.2:p.Phe956Ter
ENST00000484087.6:c.665-1491_665-1490del ENSP00000419481.2:n.665-1491_665-1490del
ENST00000700182.1:c.707-1491_707-1490del ENSP00000514849.1:n.707-1491_707-1490del
ENST00000357654.9:c.3008_3009del MANE Select ENSP00000350283.3:p.Phe1003Ter
ENST00000471181.7:c.3008_3009del ENSP00000418960.2:p.Phe1003Ter
ENST00000352993.7:c.671-1491_671-1490del ENSP00000312236.5:n.671-1491_671-1490del
ENST00000354071.7:c.3008_3009del ENSP00000326002.7:p.Phe1003Ter
ENST00000357654.7:c.3008_3009del ENSP00000350283.3:p.Phe1003Ter
ENST00000461221.5:c.*2791_*2792del ENSP00000418548.1:n.*2791_*2792del
ENST00000468300.5:c.788-1491_788-1490del ENSP00000417148.1:n.788-1491_788-1490del
ENST00000471181.6:c.3008_3009del ENSP00000418960.2:p.Phe1003Ter
ENST00000478531.5:c.785-1491_785-1490del ENSP00000420412.1:n.785-1491_785-1490del
ENST00000484087.5:c.410-1491_410-1490del ENSP00000419481.1:n.410-1491_410-1490del
ENST00000487825.5:c.413-1491_413-1490del ENSP00000418212.1:n.413-1491_413-1490del
ENST00000491747.6:c.788-1491_788-1490del ENSP00000420705.2:n.788-1491_788-1490del
ENST00000493795.5:c.2867_2868del ENSP00000418775.1:p.Phe956Ter
ENST00000493919.5:c.647-1491_647-1490del ENSP00000418819.1:n.647-1491_647-1490del
ENST00000586385.5:c.5-28572_5-28571del ENSP00000465818.1:n.5-28572_5-28571del
ENST00000591534.5:c.-43-18002_-43-18001del ENSP00000467329.1:n.-43-18002_-43-18001de...
ENST00000591849.5:c.-99+32748_-99+32749del ENSP00000465347.1:n.-99+32748_-99+32749de...
NM_007294.3:c.3008_3009del , LRG_292t1:c.3008_3009del NP_009225.1:p.Phe1003Ter
NM_007297.3:c.2867_2868del NP_009228.2:p.Phe956Ter
NM_007298.3:c.788-1491_788-1490del NP_009229.2:n.788-1491_788-1490del
NM_007299.3:c.788-1491_788-1490del NP_009230.2:n.788-1491_788-1490del
NM_007300.3:c.3008_3009del NP_009231.2:p.Phe1003Ter
NR_027676.1:n.3144_3145del
NM_007294.4:c.3008_3009del MANE Select NP_009225.1:p.Phe1003Ter
NM_007297.4:c.2867_2868del NP_009228.2:p.Phe956Ter
NM_007299.4:c.788-1491_788-1490del NP_009230.2:n.788-1491_788-1490del
NM_007300.4:c.3008_3009del NP_009231.2:p.Phe1003Ter
NR_027676.2:n.3185_3186del