Canonical Allele Identifier: CA2260783037
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092540_43092541delinsAT , CM000679.2:g.43092540_43092541delinsAT GRCh38
NC_000017.10:g.41244557_41244558delinsAT , CM000679.1:g.41244557_41244558delinsAT GRCh37
NC_000017.9:g.38498083_38498084delinsAT NCBI36
NG_005905.2:g.125443_125444delinsAT , LRG_292:g.125443_125444delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3054_3055delinsAT
ENST00000461574.2:c.2990_2991delinsAT ENSP00000417241.2:p.Asn997=
ENST00000470026.6:c.2990_2991delinsAT ENSP00000419274.2:p.Asn997=
ENST00000473961.6:c.2864_2865delinsAT ENSP00000420201.2:p.Asn955=
ENST00000476777.6:c.2987_2988delinsAT ENSP00000417554.2:p.Asn996=
ENST00000477152.6:c.2912_2913delinsAT ENSP00000419988.2:p.Asn971=
ENST00000478531.6:c.785-1509_785-1508delinsAT ENSP00000420412.2:n.785-1509_785-1508delinsAT
ENST00000489037.2:c.2912_2913delinsAT ENSP00000420781.2:p.Asn971=
ENST00000493919.6:c.647-1509_647-1508delinsAT ENSP00000418819.2:n.647-1509_647-1508delinsAT
ENST00000494123.6:c.2990_2991delinsAT ENSP00000419103.2:p.Asn997=
ENST00000497488.2:c.2102_2103delinsAT ENSP00000418986.2:p.Asn701=
ENST00000618469.2:c.2990_2991delinsAT ENSP00000478114.2:p.Asn997=
ENST00000634433.2:c.2867_2868delinsAT ENSP00000489431.2:p.Asn956=
ENST00000644379.2:c.2990_2991delinsAT ENSP00000496570.2:p.Asn997=
ENST00000644555.2:c.647-1509_647-1508delinsAT ENSP00000494614.2:n.647-1509_647-1508delinsAT
ENST00000652672.2:c.2849_2850delinsAT ENSP00000498906.2:p.Asn950=
ENST00000484087.6:c.665-1509_665-1508delinsAT ENSP00000419481.2:n.665-1509_665-1508delinsAT
ENST00000700182.1:c.707-1509_707-1508delinsAT ENSP00000514849.1:n.707-1509_707-1508delinsAT
ENST00000357654.9:c.2990_2991delinsAT MANE Select ENSP00000350283.3:p.Asn997=
ENST00000471181.7:c.2990_2991delinsAT ENSP00000418960.2:p.Asn997=
ENST00000352993.7:c.671-1509_671-1508delinsAT ENSP00000312236.5:n.671-1509_671-1508delinsAT
ENST00000354071.7:c.2990_2991delinsAT ENSP00000326002.7:p.Asn997=
ENST00000357654.7:c.2990_2991delinsAT ENSP00000350283.3:p.Asn997=
ENST00000461221.5:c.*2773_*2774delinsAT ENSP00000418548.1:n.*2773_*2774delinsAT
ENST00000468300.5:c.788-1509_788-1508delinsAT ENSP00000417148.1:n.788-1509_788-1508delinsAT
ENST00000471181.6:c.2990_2991delinsAT ENSP00000418960.2:p.Asn997=
ENST00000478531.5:c.785-1509_785-1508delinsAT ENSP00000420412.1:n.785-1509_785-1508delinsAT
ENST00000484087.5:c.410-1509_410-1508delinsAT ENSP00000419481.1:n.410-1509_410-1508delinsAT
ENST00000487825.5:c.413-1509_413-1508delinsAT ENSP00000418212.1:n.413-1509_413-1508delinsAT
ENST00000491747.6:c.788-1509_788-1508delinsAT ENSP00000420705.2:n.788-1509_788-1508delinsAT
ENST00000493795.5:c.2849_2850delinsAT ENSP00000418775.1:p.Asn950=
ENST00000493919.5:c.647-1509_647-1508delinsAT ENSP00000418819.1:n.647-1509_647-1508delinsAT
ENST00000586385.5:c.5-28590_5-28589delinsAT ENSP00000465818.1:n.5-28590_5-28589delinsAT
ENST00000591534.5:c.-43-18020_-43-18019delinsAT ENSP00000467329.1:n.-43-18020_-43-18019delinsAT
ENST00000591849.5:c.-99+32730_-99+32731delinsAT ENSP00000465347.1:n.-99+32730_-99+32731delinsAT
NM_007294.3:c.2990_2991delinsAT , LRG_292t1:c.2990_2991delinsAT NP_009225.1:p.Asn997=
NM_007297.3:c.2849_2850delinsAT NP_009228.2:p.Asn950=
NM_007298.3:c.788-1509_788-1508delinsAT NP_009229.2:n.788-1509_788-1508delinsAT
NM_007299.3:c.788-1509_788-1508delinsAT NP_009230.2:n.788-1509_788-1508delinsAT
NM_007300.3:c.2990_2991delinsAT NP_009231.2:p.Asn997=
NR_027676.1:n.3126_3127delinsAT
NM_007294.4:c.2990_2991delinsAT MANE Select NP_009225.1:p.Asn997=
NM_007297.4:c.2849_2850delinsAT NP_009228.2:p.Asn950=
NM_007299.4:c.788-1509_788-1508delinsAT NP_009230.2:n.788-1509_788-1508delinsAT
NM_007300.4:c.2990_2991delinsAT NP_009231.2:p.Asn997=
NR_027676.2:n.3167_3168delinsAT