Canonical Allele Identifier: CA2260782002
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091522_43091532delinsCACTCAGACCA , CM000679.2:g.43091522_43091532delinsCACTCAGACCA GRCh38
NC_000017.10:g.41243539_41243549delinsCACTCAGACCA , CM000679.1:g.41243539_41243549delinsCACTCAGACCA GRCh37
NC_000017.9:g.38497065_38497075delinsCACTCAGACCA NCBI36
NG_005905.2:g.126452_126462delinsTGGTCTGAGTG , LRG_292:g.126452_126462delinsTGGTCTGAGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4063_4073delinsTGGTCTGAGTG
ENST00000461574.2:c.3999_4009delinsTGGTCTGAGTG ENSP00000417241.2:p.Val1333=
ENST00000470026.6:c.3999_4009delinsTGGTCTGAGTG ENSP00000419274.2:p.Val1333=
ENST00000473961.6:c.3873_3883delinsTGGTCTGAGTG ENSP00000420201.2:p.Val1291=
ENST00000476777.6:c.3996_4006delinsTGGTCTGAGTG ENSP00000417554.2:p.Val1332=
ENST00000477152.6:c.3921_3931delinsTGGTCTGAGTG ENSP00000419988.2:p.Val1307=
ENST00000478531.6:c.785-500_785-490delinsTGGTCTGAGTG ENSP00000420412.2:n.785-500_785-490delinsTGGTCTGAGTG
ENST00000489037.2:c.3921_3931delinsTGGTCTGAGTG ENSP00000420781.2:p.Val1307=
ENST00000493919.6:c.647-500_647-490delinsTGGTCTGAGTG ENSP00000418819.2:n.647-500_647-490delinsTGGTCTGAGTG
ENST00000494123.6:c.3999_4009delinsTGGTCTGAGTG ENSP00000419103.2:p.Val1333=
ENST00000497488.2:c.3111_3121delinsTGGTCTGAGTG ENSP00000418986.2:p.Val1037=
ENST00000618469.2:c.3999_4009delinsTGGTCTGAGTG ENSP00000478114.2:p.Val1333=
ENST00000634433.2:c.3876_3886delinsTGGTCTGAGTG ENSP00000489431.2:p.Val1292=
ENST00000644379.2:c.3999_4009delinsTGGTCTGAGTG ENSP00000496570.2:p.Val1333=
ENST00000644555.2:c.647-500_647-490delinsTGGTCTGAGTG ENSP00000494614.2:n.647-500_647-490delinsTGGTCTGAGTG
ENST00000652672.2:c.3858_3868delinsTGGTCTGAGTG ENSP00000498906.2:p.Val1286=
ENST00000484087.6:c.665-500_665-490delinsTGGTCTGAGTG ENSP00000419481.2:n.665-500_665-490delinsTGGTCTGAGTG
ENST00000700182.1:c.707-500_707-490delinsTGGTCTGAGTG ENSP00000514849.1:n.707-500_707-490delinsTGGTCTGAGTG
ENST00000357654.9:c.3999_4009delinsTGGTCTGAGTG MANE Select ENSP00000350283.3:p.Val1333=
ENST00000471181.7:c.3999_4009delinsTGGTCTGAGTG ENSP00000418960.2:p.Val1333=
ENST00000644379.1:c.320_330delinsTGGTCTGAGTG
ENST00000352993.7:c.671-500_671-490delinsTGGTCTGAGTG ENSP00000312236.5:n.671-500_671-490delinsTGGTCTGAGTG
ENST00000354071.7:c.3999_4009delinsTGGTCTGAGTG ENSP00000326002.7:p.Val1333=
ENST00000357654.7:c.3999_4009delinsTGGTCTGAGTG ENSP00000350283.3:p.Val1333=
ENST00000461221.5:c.*3782_*3792delinsTGGTCTGAGTG ENSP00000418548.1:n.*3782_*3792delinsTGGTCTGAGTG
ENST00000461574.1:c.293_303delinsTGGTCTGAGTG
ENST00000468300.5:c.788-500_788-490delinsTGGTCTGAGTG ENSP00000417148.1:n.788-500_788-490delinsTGGTCTGAGTG
ENST00000471181.6:c.3999_4009delinsTGGTCTGAGTG ENSP00000418960.2:p.Val1333=
ENST00000478531.5:c.785-500_785-490delinsTGGTCTGAGTG ENSP00000420412.1:n.785-500_785-490delinsTGGTCTGAGTG
ENST00000484087.5:c.410-500_410-490delinsTGGTCTGAGTG ENSP00000419481.1:n.410-500_410-490delinsTGGTCTGAGTG
ENST00000487825.5:c.413-500_413-490delinsTGGTCTGAGTG ENSP00000418212.1:n.413-500_413-490delinsTGGTCTGAGTG
ENST00000491747.6:c.788-500_788-490delinsTGGTCTGAGTG ENSP00000420705.2:n.788-500_788-490delinsTGGTCTGAGTG
ENST00000493795.5:c.3858_3868delinsTGGTCTGAGTG ENSP00000418775.1:p.Val1286=
ENST00000493919.5:c.647-500_647-490delinsTGGTCTGAGTG ENSP00000418819.1:n.647-500_647-490delinsTGGTCTGAGTG
ENST00000586385.5:c.5-27581_5-27571delinsTGGTCTGAGTG ENSP00000465818.1:n.5-27581_5-27571delinsTGGTCTGAGTG
ENST00000591534.5:c.-43-17011_-43-17001delinsTGGTCTGAGTG ENSP00000467329.1:n.-43-17011_-43-17001delinsTGGTCTGAGTG
ENST00000591849.5:c.-99+33739_-99+33749delinsTGGTCTGAGTG ENSP00000465347.1:n.-99+33739_-99+33749delinsTGGTCTGAGTG
NM_007294.3:c.3999_4009delinsTGGTCTGAGTG , LRG_292t1:c.3999_4009delinsTGGTCTGAGTG NP_009225.1:p.Val1333=
NM_007297.3:c.3858_3868delinsTGGTCTGAGTG NP_009228.2:p.Val1286=
NM_007298.3:c.788-500_788-490delinsTGGTCTGAGTG NP_009229.2:n.788-500_788-490delinsTGGTCTGAGTG
NM_007299.3:c.788-500_788-490delinsTGGTCTGAGTG NP_009230.2:n.788-500_788-490delinsTGGTCTGAGTG
NM_007300.3:c.3999_4009delinsTGGTCTGAGTG NP_009231.2:p.Val1333=
NR_027676.1:n.4135_4145delinsTGGTCTGAGTG
NM_007294.4:c.3999_4009delinsTGGTCTGAGTG MANE Select NP_009225.1:p.Val1333=
NM_007297.4:c.3858_3868delinsTGGTCTGAGTG NP_009228.2:p.Val1286=
NM_007299.4:c.788-500_788-490delinsTGGTCTGAGTG NP_009230.2:n.788-500_788-490delinsTGGTCTGAGTG
NM_007300.4:c.3999_4009delinsTGGTCTGAGTG NP_009231.2:p.Val1333=
NR_027676.2:n.4176_4186delinsTGGTCTGAGTG