Canonical Allele Identifier: CA919844490
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1567788997

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091455del , CM000679.2:g.43091455del GRCh38
NC_000017.10:g.41243472del , CM000679.1:g.41243472del GRCh37
NC_000017.9:g.38496998del NCBI36
NG_005905.2:g.126531del , LRG_292:g.126531del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4142del
ENST00000461574.2:c.4078del ENSP00000417241.2:p.Ser1360AlafsTer6
ENST00000470026.6:c.4078del ENSP00000419274.2:p.Ser1360AlafsTer6
ENST00000473961.6:c.3952del ENSP00000420201.2:p.Ser1318AlafsTer6
ENST00000476777.6:c.4075del ENSP00000417554.2:p.Ser1359AlafsTer6
ENST00000477152.6:c.4000del ENSP00000419988.2:p.Ser1334AlafsTer6
ENST00000478531.6:c.785-421del ENSP00000420412.2:n.785-421del
ENST00000489037.2:c.4000del ENSP00000420781.2:p.Ser1334AlafsTer6
ENST00000493919.6:c.647-421del ENSP00000418819.2:n.647-421del
ENST00000494123.6:c.4078del ENSP00000419103.2:p.Ser1360AlafsTer6
ENST00000497488.2:c.3190del ENSP00000418986.2:p.Ser1064AlafsTer6
ENST00000618469.2:c.4078del ENSP00000478114.2:p.Ser1360AlafsTer6
ENST00000634433.2:c.3955del ENSP00000489431.2:p.Ser1319AlafsTer6
ENST00000644379.2:c.4078del ENSP00000496570.2:p.Ser1360AlafsTer6
ENST00000644555.2:c.647-421del ENSP00000494614.2:n.647-421del
ENST00000652672.2:c.3937del ENSP00000498906.2:p.Ser1313AlafsTer6
ENST00000484087.6:c.665-421del ENSP00000419481.2:n.665-421del
ENST00000700182.1:c.707-421del ENSP00000514849.1:n.707-421del
ENST00000357654.9:c.4078del MANE Select ENSP00000350283.3:p.Ser1360AlafsTer6
ENST00000471181.7:c.4078del ENSP00000418960.2:p.Ser1360AlafsTer6
ENST00000644379.1:c.399del
ENST00000352993.7:c.671-421del ENSP00000312236.5:n.671-421del
ENST00000354071.7:c.4078del ENSP00000326002.7:p.Ser1360AlafsTer6
ENST00000357654.7:c.4078del ENSP00000350283.3:p.Ser1360AlafsTer6
ENST00000461221.5:c.*3861del ENSP00000418548.1:n.*3861del
ENST00000461574.1:c.372del
ENST00000468300.5:c.788-421del ENSP00000417148.1:n.788-421del
ENST00000471181.6:c.4078del ENSP00000418960.2:p.Ser1360AlafsTer6
ENST00000478531.5:c.785-421del ENSP00000420412.1:n.785-421del
ENST00000484087.5:c.410-421del ENSP00000419481.1:n.410-421del
ENST00000487825.5:c.413-421del ENSP00000418212.1:n.413-421del
ENST00000491747.6:c.788-421del ENSP00000420705.2:n.788-421del
ENST00000493795.5:c.3937del ENSP00000418775.1:p.Ser1313AlafsTer6
ENST00000493919.5:c.647-421del ENSP00000418819.1:n.647-421del
ENST00000586385.5:c.5-27502del ENSP00000465818.1:n.5-27502del
ENST00000591534.5:c.-43-16932del ENSP00000467329.1:n.-43-16932del
ENST00000591849.5:c.-99+33818del ENSP00000465347.1:n.-99+33818del
NM_007294.3:c.4078del , LRG_292t1:c.4078del NP_009225.1:p.Ser1360AlafsTer6
NM_007297.3:c.3937del NP_009228.2:p.Ser1313AlafsTer6
NM_007298.3:c.788-421del NP_009229.2:n.788-421del
NM_007299.3:c.788-421del NP_009230.2:n.788-421del
NM_007300.3:c.4078del NP_009231.2:p.Ser1360AlafsTer6
NR_027676.1:n.4214del
NM_007294.4:c.4078del MANE Select NP_009225.1:p.Ser1360AlafsTer6
NM_007297.4:c.3937del NP_009228.2:p.Ser1313AlafsTer6
NM_007299.4:c.788-421del NP_009230.2:n.788-421del
NM_007300.4:c.4078del NP_009231.2:p.Ser1360AlafsTer6
NR_027676.2:n.4255del