Canonical Allele Identifier: CA915950134
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 822914
ClinVar RCV Id: RCV001018683
dbSNP Id: rs1597865625

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092416_43092418delinsTC , CM000679.2:g.43092416_43092418delinsTC GRCh38
NC_000017.10:g.41244433_41244435delinsTC , CM000679.1:g.41244433_41244435delinsTC GRCh37
NC_000017.9:g.38497959_38497961delinsTC NCBI36
NG_005905.2:g.125566_125568delinsGA , LRG_292:g.125566_125568delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3177_3179delinsGA
ENST00000461574.2:c.3113_3115delinsGA ENSP00000417241.2:p.Glu1038GlyfsTer10
ENST00000470026.6:c.3113_3115delinsGA ENSP00000419274.2:p.Glu1038GlyfsTer10
ENST00000473961.6:c.2987_2989delinsGA ENSP00000420201.2:p.Glu996GlyfsTer10
ENST00000476777.6:c.3110_3112delinsGA ENSP00000417554.2:p.Glu1037GlyfsTer10
ENST00000477152.6:c.3035_3037delinsGA ENSP00000419988.2:p.Glu1012GlyfsTer10
ENST00000478531.6:c.785-1386_785-1384delinsGA ENSP00000420412.2:n.785-1386_785-1384delinsGA
ENST00000489037.2:c.3035_3037delinsGA ENSP00000420781.2:p.Glu1012GlyfsTer10
ENST00000493919.6:c.647-1386_647-1384delinsGA ENSP00000418819.2:n.647-1386_647-1384delinsGA
ENST00000494123.6:c.3113_3115delinsGA ENSP00000419103.2:p.Glu1038GlyfsTer10
ENST00000497488.2:c.2225_2227delinsGA ENSP00000418986.2:p.Glu742GlyfsTer10
ENST00000618469.2:c.3113_3115delinsGA ENSP00000478114.2:p.Glu1038GlyfsTer10
ENST00000634433.2:c.2990_2992delinsGA ENSP00000489431.2:p.Glu997GlyfsTer10
ENST00000644379.2:c.3113_3115delinsGA ENSP00000496570.2:p.Glu1038GlyfsTer10
ENST00000644555.2:c.647-1386_647-1384delinsGA ENSP00000494614.2:n.647-1386_647-1384delinsGA
ENST00000652672.2:c.2972_2974delinsGA ENSP00000498906.2:p.Glu991GlyfsTer10
ENST00000484087.6:c.665-1386_665-1384delinsGA ENSP00000419481.2:n.665-1386_665-1384delinsGA
ENST00000700182.1:c.707-1386_707-1384delinsGA ENSP00000514849.1:n.707-1386_707-1384delinsGA
ENST00000357654.9:c.3113_3115delinsGA MANE Select ENSP00000350283.3:p.Glu1038GlyfsTer10
ENST00000471181.7:c.3113_3115delinsGA ENSP00000418960.2:p.Glu1038GlyfsTer10
ENST00000352993.7:c.671-1386_671-1384delinsGA ENSP00000312236.5:n.671-1386_671-1384delinsGA
ENST00000354071.7:c.3113_3115delinsGA ENSP00000326002.7:p.Glu1038GlyfsTer10
ENST00000357654.7:c.3113_3115delinsGA ENSP00000350283.3:p.Glu1038GlyfsTer10
ENST00000461221.5:c.*2896_*2898delinsGA ENSP00000418548.1:n.*2896_*2898delinsGA
ENST00000468300.5:c.788-1386_788-1384delinsGA ENSP00000417148.1:n.788-1386_788-1384delinsGA
ENST00000471181.6:c.3113_3115delinsGA ENSP00000418960.2:p.Glu1038GlyfsTer10
ENST00000478531.5:c.785-1386_785-1384delinsGA ENSP00000420412.1:n.785-1386_785-1384delinsGA
ENST00000484087.5:c.410-1386_410-1384delinsGA ENSP00000419481.1:n.410-1386_410-1384delinsGA
ENST00000487825.5:c.413-1386_413-1384delinsGA ENSP00000418212.1:n.413-1386_413-1384delinsGA
ENST00000491747.6:c.788-1386_788-1384delinsGA ENSP00000420705.2:n.788-1386_788-1384delinsGA
ENST00000493795.5:c.2972_2974delinsGA ENSP00000418775.1:p.Glu991GlyfsTer10
ENST00000493919.5:c.647-1386_647-1384delinsGA ENSP00000418819.1:n.647-1386_647-1384delinsGA
ENST00000586385.5:c.5-28467_5-28465delinsGA ENSP00000465818.1:n.5-28467_5-28465delinsGA
ENST00000591534.5:c.-43-17897_-43-17895delinsGA ENSP00000467329.1:n.-43-17897_-43-17895delinsGA
ENST00000591849.5:c.-99+32853_-99+32855delinsGA ENSP00000465347.1:n.-99+32853_-99+32855delinsGA
NM_007294.3:c.3113_3115delinsGA , LRG_292t1:c.3113_3115delinsGA NP_009225.1:p.Glu1038GlyfsTer10
NM_007297.3:c.2972_2974delinsGA NP_009228.2:p.Glu991GlyfsTer10
NM_007298.3:c.788-1386_788-1384delinsGA NP_009229.2:n.788-1386_788-1384delinsGA
NM_007299.3:c.788-1386_788-1384delinsGA NP_009230.2:n.788-1386_788-1384delinsGA
NM_007300.3:c.3113_3115delinsGA NP_009231.2:p.Glu1038GlyfsTer10
NR_027676.1:n.3249_3251delinsGA
NM_007294.4:c.3113_3115delinsGA MANE Select NP_009225.1:p.Glu1038GlyfsTer10
NM_007297.4:c.2972_2974delinsGA NP_009228.2:p.Glu991GlyfsTer10
NM_007299.4:c.788-1386_788-1384delinsGA NP_009230.2:n.788-1386_788-1384delinsGA
NM_007300.4:c.3113_3115delinsGA NP_009231.2:p.Glu1038GlyfsTer10
NR_027676.2:n.3290_3292delinsGA