Canonical Allele Identifier: CA002824
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 141260
dbSNP Id: rs587781611

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43076571del , CM000679.2:g.43076571del GRCh38
NC_000017.10:g.41228588del , CM000679.1:g.41228588del GRCh37
NC_000017.9:g.38482114del NCBI36
NG_005905.2:g.141413del , LRG_292:g.141413del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4398del ENSP00000417241.2:p.Asn1467IlefsTer?
ENST00000470026.6:c.4401del ENSP00000419274.2:p.Asn1468IlefsTer?
ENST00000473961.6:c.4275del ENSP00000420201.2:p.Asn1426IlefsTer?
ENST00000476777.6:c.4395del ENSP00000417554.2:p.Asn1466IlefsTer?
ENST00000477152.6:c.4323del ENSP00000419988.2:p.Asn1442IlefsTer?
ENST00000478531.6:c.1089del ENSP00000420412.2:p.Asn364IlefsTer?
ENST00000489037.2:c.4323del ENSP00000420781.2:p.Asn1442IlefsTer?
ENST00000493919.6:c.951del ENSP00000418819.2:p.Asn318IlefsTer?
ENST00000494123.6:c.4401del ENSP00000419103.2:p.Asn1468IlefsTer?
ENST00000497488.2:c.3513del ENSP00000418986.2:p.Asn1172IlefsTer?
ENST00000618469.2:c.4401del ENSP00000478114.2:p.Asn1468IlefsTer?
ENST00000634433.2:c.4278del ENSP00000489431.2:p.Asn1427IlefsTer?
ENST00000644379.2:c.4467del ENSP00000496570.2:p.Asn1490IlefsTer?
ENST00000644555.2:c.951del ENSP00000494614.2:p.Asn318IlefsTer?
ENST00000652672.2:c.4260del ENSP00000498906.2:p.Asn1421IlefsTer?
ENST00000484087.6:c.963del ENSP00000419481.2:p.Asn322IlefsTer?
ENST00000700182.1:c.1008del ENSP00000514849.1:p.Asn337IlefsTer?
ENST00000357654.9:c.4401del MANE Select ENSP00000350283.3:p.Asn1468IlefsTer?
ENST00000471181.7:c.4464del ENSP00000418960.2:p.Asn1489IlefsTer?
ENST00000644379.1:c.788del
ENST00000352993.7:c.975del ENSP00000312236.5:p.Asn326IlefsTer?
ENST00000357654.7:c.4401del ENSP00000350283.3:p.Asn1468IlefsTer?
ENST00000461221.5:c.*4184del ENSP00000418548.1:n.*4184del
ENST00000461574.1:c.692del
ENST00000468300.5:c.1089del ENSP00000417148.1:p.Asn364IlefsTer?
ENST00000471181.6:c.4464del ENSP00000418960.2:p.Asn1489IlefsTer?
ENST00000478531.5:c.1089del ENSP00000420412.1:p.Asn364IlefsTer?
ENST00000484087.5:c.714del ENSP00000419481.1:p.Asn239IlefsTer?
ENST00000487825.5:c.717del ENSP00000418212.1:p.Asn240IlefsTer?
ENST00000491747.6:c.1089del ENSP00000420705.2:p.Asn364IlefsTer?
ENST00000493795.5:c.4260del ENSP00000418775.1:p.Asn1421IlefsTer?
ENST00000493919.5:c.951del ENSP00000418819.1:p.Asn318IlefsTer?
ENST00000586385.5:c.5-12620del ENSP00000465818.1:n.5-12620del
ENST00000591534.5:c.-43-2050del ENSP00000467329.1:n.-43-2050del
ENST00000591849.5:c.-98-26381del ENSP00000465347.1:n.-98-26381del
ENST00000621897.1:n.292del
NM_007294.3:c.4401del , LRG_292t1:c.4401del NP_009225.1:p.Asn1468IlefsTer?
NM_007297.3:c.4260del NP_009228.2:p.Asn1421IlefsTer?
NM_007298.3:c.1089del NP_009229.2:p.Asn364IlefsTer?
NM_007299.3:c.1089del NP_009230.2:p.Asn364IlefsTer?
NM_007300.3:c.4464del NP_009231.2:p.Asn1489IlefsTer?
NR_027676.1:n.4537del
NM_007294.4:c.4401del MANE Select NP_009225.1:p.Asn1468IlefsTer?
NM_007297.4:c.4260del NP_009228.2:p.Asn1421IlefsTer?
NM_007299.4:c.1089del NP_009230.2:p.Asn364IlefsTer?
NM_007300.4:c.4464del NP_009231.2:p.Asn1489IlefsTer?
NR_027676.2:n.4578del