Canonical Allele Identifier: CA2260782016
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091537_43091541delinsCCTGG , CM000679.2:g.43091537_43091541delinsCCTGG GRCh38
NC_000017.10:g.41243554_41243558delinsCCTGG , CM000679.1:g.41243554_41243558delinsCCTGG GRCh37
NC_000017.9:g.38497080_38497084delinsCCTGG NCBI36
NG_005905.2:g.126443_126447delinsCCAGG , LRG_292:g.126443_126447delinsCCAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4054_4058delinsCCAGG
ENST00000461574.2:c.3990_3994delinsCCAGG ENSP00000417241.2:p.Ser1330=
ENST00000470026.6:c.3990_3994delinsCCAGG ENSP00000419274.2:p.Ser1330=
ENST00000473961.6:c.3864_3868delinsCCAGG ENSP00000420201.2:p.Ser1288=
ENST00000476777.6:c.3987_3991delinsCCAGG ENSP00000417554.2:p.Ser1329=
ENST00000477152.6:c.3912_3916delinsCCAGG ENSP00000419988.2:p.Ser1304=
ENST00000478531.6:c.785-509_785-505delinsCCAGG ENSP00000420412.2:n.785-509_785-505delinsCCAGG
ENST00000489037.2:c.3912_3916delinsCCAGG ENSP00000420781.2:p.Ser1304=
ENST00000493919.6:c.647-509_647-505delinsCCAGG ENSP00000418819.2:n.647-509_647-505delinsCCAGG
ENST00000494123.6:c.3990_3994delinsCCAGG ENSP00000419103.2:p.Ser1330=
ENST00000497488.2:c.3102_3106delinsCCAGG ENSP00000418986.2:p.Ser1034=
ENST00000618469.2:c.3990_3994delinsCCAGG ENSP00000478114.2:p.Ser1330=
ENST00000634433.2:c.3867_3871delinsCCAGG ENSP00000489431.2:p.Ser1289=
ENST00000644379.2:c.3990_3994delinsCCAGG ENSP00000496570.2:p.Ser1330=
ENST00000644555.2:c.647-509_647-505delinsCCAGG ENSP00000494614.2:n.647-509_647-505delinsCCAGG
ENST00000652672.2:c.3849_3853delinsCCAGG ENSP00000498906.2:p.Ser1283=
ENST00000484087.6:c.665-509_665-505delinsCCAGG ENSP00000419481.2:n.665-509_665-505delinsCCAGG
ENST00000700182.1:c.707-509_707-505delinsCCAGG ENSP00000514849.1:n.707-509_707-505delinsCCAGG
ENST00000357654.9:c.3990_3994delinsCCAGG MANE Select ENSP00000350283.3:p.Ser1330=
ENST00000471181.7:c.3990_3994delinsCCAGG ENSP00000418960.2:p.Ser1330=
ENST00000644379.1:c.311_315delinsCCAGG
ENST00000352993.7:c.671-509_671-505delinsCCAGG ENSP00000312236.5:n.671-509_671-505delinsCCAGG
ENST00000354071.7:c.3990_3994delinsCCAGG ENSP00000326002.7:p.Ser1330=
ENST00000357654.7:c.3990_3994delinsCCAGG ENSP00000350283.3:p.Ser1330=
ENST00000461221.5:c.*3773_*3777delinsCCAGG ENSP00000418548.1:n.*3773_*3777delinsCCAGG
ENST00000461574.1:c.284_288delinsCCAGG
ENST00000468300.5:c.788-509_788-505delinsCCAGG ENSP00000417148.1:n.788-509_788-505delinsCCAGG
ENST00000471181.6:c.3990_3994delinsCCAGG ENSP00000418960.2:p.Ser1330=
ENST00000478531.5:c.785-509_785-505delinsCCAGG ENSP00000420412.1:n.785-509_785-505delinsCCAGG
ENST00000484087.5:c.410-509_410-505delinsCCAGG ENSP00000419481.1:n.410-509_410-505delinsCCAGG
ENST00000487825.5:c.413-509_413-505delinsCCAGG ENSP00000418212.1:n.413-509_413-505delinsCCAGG
ENST00000491747.6:c.788-509_788-505delinsCCAGG ENSP00000420705.2:n.788-509_788-505delinsCCAGG
ENST00000493795.5:c.3849_3853delinsCCAGG ENSP00000418775.1:p.Ser1283=
ENST00000493919.5:c.647-509_647-505delinsCCAGG ENSP00000418819.1:n.647-509_647-505delinsCCAGG
ENST00000586385.5:c.5-27590_5-27586delinsCCAGG ENSP00000465818.1:n.5-27590_5-27586delinsCCAGG
ENST00000591534.5:c.-43-17020_-43-17016delinsCCAGG ENSP00000467329.1:n.-43-17020_-43-17016delinsCCAGG
ENST00000591849.5:c.-99+33730_-99+33734delinsCCAGG ENSP00000465347.1:n.-99+33730_-99+33734delinsCCAGG
NM_007294.3:c.3990_3994delinsCCAGG , LRG_292t1:c.3990_3994delinsCCAGG NP_009225.1:p.Ser1330=
NM_007297.3:c.3849_3853delinsCCAGG NP_009228.2:p.Ser1283=
NM_007298.3:c.788-509_788-505delinsCCAGG NP_009229.2:n.788-509_788-505delinsCCAGG
NM_007299.3:c.788-509_788-505delinsCCAGG NP_009230.2:n.788-509_788-505delinsCCAGG
NM_007300.3:c.3990_3994delinsCCAGG NP_009231.2:p.Ser1330=
NR_027676.1:n.4126_4130delinsCCAGG
NM_007294.4:c.3990_3994delinsCCAGG MANE Select NP_009225.1:p.Ser1330=
NM_007297.4:c.3849_3853delinsCCAGG NP_009228.2:p.Ser1283=
NM_007299.4:c.788-509_788-505delinsCCAGG NP_009230.2:n.788-509_788-505delinsCCAGG
NM_007300.4:c.3990_3994delinsCCAGG NP_009231.2:p.Ser1330=
NR_027676.2:n.4167_4171delinsCCAGG