Canonical Allele Identifier: CA002064
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54788
dbSNP Id: rs397509045

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092359_43092362del , CM000679.2:g.43092359_43092362del GRCh38
NC_000017.10:g.41244376_41244379del , CM000679.1:g.41244376_41244379del GRCh37
NC_000017.9:g.38497902_38497905del NCBI36
NG_005905.2:g.125622_125625del , LRG_292:g.125622_125625del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3233_3236del
ENST00000461574.2:c.3169_3172del ENSP00000417241.2:p.Ser1057LeufsTer4
ENST00000470026.6:c.3169_3172del ENSP00000419274.2:p.Ser1057LeufsTer4
ENST00000473961.6:c.3043_3046del ENSP00000420201.2:p.Ser1015LeufsTer4
ENST00000476777.6:c.3166_3169del ENSP00000417554.2:p.Ser1056LeufsTer4
ENST00000477152.6:c.3091_3094del ENSP00000419988.2:p.Ser1031LeufsTer4
ENST00000478531.6:c.785-1330_785-1327del ENSP00000420412.2:n.785-1330_785-1327del
ENST00000489037.2:c.3091_3094del ENSP00000420781.2:p.Ser1031LeufsTer4
ENST00000493919.6:c.647-1330_647-1327del ENSP00000418819.2:n.647-1330_647-1327del
ENST00000494123.6:c.3169_3172del ENSP00000419103.2:p.Ser1057LeufsTer4
ENST00000497488.2:c.2281_2284del ENSP00000418986.2:p.Ser761LeufsTer4
ENST00000618469.2:c.3169_3172del ENSP00000478114.2:p.Ser1057LeufsTer4
ENST00000634433.2:c.3046_3049del ENSP00000489431.2:p.Ser1016LeufsTer4
ENST00000644379.2:c.3169_3172del ENSP00000496570.2:p.Ser1057LeufsTer4
ENST00000644555.2:c.647-1330_647-1327del ENSP00000494614.2:n.647-1330_647-1327del
ENST00000652672.2:c.3028_3031del ENSP00000498906.2:p.Ser1010LeufsTer4
ENST00000484087.6:c.665-1330_665-1327del ENSP00000419481.2:n.665-1330_665-1327del
ENST00000700182.1:c.707-1330_707-1327del ENSP00000514849.1:n.707-1330_707-1327del
ENST00000357654.9:c.3169_3172del MANE Select ENSP00000350283.3:p.Ser1057LeufsTer4
ENST00000471181.7:c.3169_3172del ENSP00000418960.2:p.Ser1057LeufsTer4
ENST00000352993.7:c.671-1330_671-1327del ENSP00000312236.5:n.671-1330_671-1327del
ENST00000354071.7:c.3169_3172del ENSP00000326002.7:p.Ser1057LeufsTer4
ENST00000357654.7:c.3169_3172del ENSP00000350283.3:p.Ser1057LeufsTer4
ENST00000461221.5:c.*2952_*2955del ENSP00000418548.1:n.*2952_*2955del
ENST00000468300.5:c.788-1330_788-1327del ENSP00000417148.1:n.788-1330_788-1327del
ENST00000471181.6:c.3169_3172del ENSP00000418960.2:p.Ser1057LeufsTer4
ENST00000478531.5:c.785-1330_785-1327del ENSP00000420412.1:n.785-1330_785-1327del
ENST00000484087.5:c.410-1330_410-1327del ENSP00000419481.1:n.410-1330_410-1327del
ENST00000487825.5:c.413-1330_413-1327del ENSP00000418212.1:n.413-1330_413-1327del
ENST00000491747.6:c.788-1330_788-1327del ENSP00000420705.2:n.788-1330_788-1327del
ENST00000493795.5:c.3028_3031del ENSP00000418775.1:p.Ser1010LeufsTer4
ENST00000493919.5:c.647-1330_647-1327del ENSP00000418819.1:n.647-1330_647-1327del
ENST00000586385.5:c.5-28411_5-28408del ENSP00000465818.1:n.5-28411_5-28408del
ENST00000591534.5:c.-43-17841_-43-17838del ENSP00000467329.1:n.-43-17841_-43-17838del
ENST00000591849.5:c.-99+32909_-99+32912del ENSP00000465347.1:n.-99+32909_-99+32912del
NM_007294.3:c.3169_3172del , LRG_292t1:c.3169_3172del NP_009225.1:p.Ser1057LeufsTer4
NM_007297.3:c.3028_3031del NP_009228.2:p.Ser1010LeufsTer4
NM_007298.3:c.788-1330_788-1327del NP_009229.2:n.788-1330_788-1327del
NM_007299.3:c.788-1330_788-1327del NP_009230.2:n.788-1330_788-1327del
NM_007300.3:c.3169_3172del NP_009231.2:p.Ser1057LeufsTer4
NR_027676.1:n.3305_3308del
NM_007294.4:c.3169_3172del MANE Select NP_009225.1:p.Ser1057LeufsTer4
NM_007297.4:c.3028_3031del NP_009228.2:p.Ser1010LeufsTer4
NM_007299.4:c.788-1330_788-1327del NP_009230.2:n.788-1330_788-1327del
NM_007300.4:c.3169_3172del NP_009231.2:p.Ser1057LeufsTer4
NR_027676.2:n.3346_3349del