Canonical Allele Identifier: CA2260781989
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091508_43091509delinsAA , CM000679.2:g.43091508_43091509delinsAA GRCh38
NC_000017.10:g.41243525_41243526delinsAA , CM000679.1:g.41243525_41243526delinsAA GRCh37
NC_000017.9:g.38497051_38497052delinsAA NCBI36
NG_005905.2:g.126475_126476delinsTT , LRG_292:g.126475_126476delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4086_4087delinsTT
ENST00000461574.2:c.4022_4023delinsTT ENSP00000417241.2:p.Val1341=
ENST00000470026.6:c.4022_4023delinsTT ENSP00000419274.2:p.Val1341=
ENST00000473961.6:c.3896_3897delinsTT ENSP00000420201.2:p.Val1299=
ENST00000476777.6:c.4019_4020delinsTT ENSP00000417554.2:p.Val1340=
ENST00000477152.6:c.3944_3945delinsTT ENSP00000419988.2:p.Val1315=
ENST00000478531.6:c.785-477_785-476delinsTT ENSP00000420412.2:n.785-477_785-476delinsTT
ENST00000489037.2:c.3944_3945delinsTT ENSP00000420781.2:p.Val1315=
ENST00000493919.6:c.647-477_647-476delinsTT ENSP00000418819.2:n.647-477_647-476delinsTT
ENST00000494123.6:c.4022_4023delinsTT ENSP00000419103.2:p.Val1341=
ENST00000497488.2:c.3134_3135delinsTT ENSP00000418986.2:p.Val1045=
ENST00000618469.2:c.4022_4023delinsTT ENSP00000478114.2:p.Val1341=
ENST00000634433.2:c.3899_3900delinsTT ENSP00000489431.2:p.Val1300=
ENST00000644379.2:c.4022_4023delinsTT ENSP00000496570.2:p.Val1341=
ENST00000644555.2:c.647-477_647-476delinsTT ENSP00000494614.2:n.647-477_647-476delinsTT
ENST00000652672.2:c.3881_3882delinsTT ENSP00000498906.2:p.Val1294=
ENST00000484087.6:c.665-477_665-476delinsTT ENSP00000419481.2:n.665-477_665-476delinsTT
ENST00000700182.1:c.707-477_707-476delinsTT ENSP00000514849.1:n.707-477_707-476delinsTT
ENST00000357654.9:c.4022_4023delinsTT MANE Select ENSP00000350283.3:p.Val1341=
ENST00000471181.7:c.4022_4023delinsTT ENSP00000418960.2:p.Val1341=
ENST00000644379.1:c.343_344delinsTT
ENST00000352993.7:c.671-477_671-476delinsTT ENSP00000312236.5:n.671-477_671-476delinsTT
ENST00000354071.7:c.4022_4023delinsTT ENSP00000326002.7:p.Val1341=
ENST00000357654.7:c.4022_4023delinsTT ENSP00000350283.3:p.Val1341=
ENST00000461221.5:c.*3805_*3806delinsTT ENSP00000418548.1:n.*3805_*3806delinsTT
ENST00000461574.1:c.316_317delinsTT
ENST00000468300.5:c.788-477_788-476delinsTT ENSP00000417148.1:n.788-477_788-476delinsTT
ENST00000471181.6:c.4022_4023delinsTT ENSP00000418960.2:p.Val1341=
ENST00000478531.5:c.785-477_785-476delinsTT ENSP00000420412.1:n.785-477_785-476delinsTT
ENST00000484087.5:c.410-477_410-476delinsTT ENSP00000419481.1:n.410-477_410-476delinsTT
ENST00000487825.5:c.413-477_413-476delinsTT ENSP00000418212.1:n.413-477_413-476delinsTT
ENST00000491747.6:c.788-477_788-476delinsTT ENSP00000420705.2:n.788-477_788-476delinsTT
ENST00000493795.5:c.3881_3882delinsTT ENSP00000418775.1:p.Val1294=
ENST00000493919.5:c.647-477_647-476delinsTT ENSP00000418819.1:n.647-477_647-476delinsTT
ENST00000586385.5:c.5-27558_5-27557delinsTT ENSP00000465818.1:n.5-27558_5-27557delinsTT
ENST00000591534.5:c.-43-16988_-43-16987delinsTT ENSP00000467329.1:n.-43-16988_-43-16987delinsTT
ENST00000591849.5:c.-99+33762_-99+33763delinsTT ENSP00000465347.1:n.-99+33762_-99+33763delinsTT
NM_007294.3:c.4022_4023delinsTT , LRG_292t1:c.4022_4023delinsTT NP_009225.1:p.Val1341=
NM_007297.3:c.3881_3882delinsTT NP_009228.2:p.Val1294=
NM_007298.3:c.788-477_788-476delinsTT NP_009229.2:n.788-477_788-476delinsTT
NM_007299.3:c.788-477_788-476delinsTT NP_009230.2:n.788-477_788-476delinsTT
NM_007300.3:c.4022_4023delinsTT NP_009231.2:p.Val1341=
NR_027676.1:n.4158_4159delinsTT
NM_007294.4:c.4022_4023delinsTT MANE Select NP_009225.1:p.Val1341=
NM_007297.4:c.3881_3882delinsTT NP_009228.2:p.Val1294=
NM_007299.4:c.788-477_788-476delinsTT NP_009230.2:n.788-477_788-476delinsTT
NM_007300.4:c.4022_4023delinsTT NP_009231.2:p.Val1341=
NR_027676.2:n.4199_4200delinsTT