Canonical Allele Identifier: CA16620424
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419556
dbSNP Id: rs1064793951

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43076561del , CM000679.2:g.43076561del GRCh38
NC_000017.10:g.41228578del , CM000679.1:g.41228578del GRCh37
NC_000017.9:g.38482104del NCBI36
NG_005905.2:g.141424del , LRG_292:g.141424del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4409del ENSP00000417241.2:p.Gly1470AlafsTer?
ENST00000470026.6:c.4412del ENSP00000419274.2:p.Gly1471AlafsTer?
ENST00000473961.6:c.4286del ENSP00000420201.2:p.Gly1429AlafsTer?
ENST00000476777.6:c.4406del ENSP00000417554.2:p.Gly1469AlafsTer?
ENST00000477152.6:c.4334del ENSP00000419988.2:p.Gly1445AlafsTer?
ENST00000478531.6:c.1100del ENSP00000420412.2:p.Gly367AlafsTer?
ENST00000489037.2:c.4334del ENSP00000420781.2:p.Gly1445AlafsTer?
ENST00000493919.6:c.962del ENSP00000418819.2:p.Gly321AlafsTer?
ENST00000494123.6:c.4412del ENSP00000419103.2:p.Gly1471AlafsTer?
ENST00000497488.2:c.3524del ENSP00000418986.2:p.Gly1175AlafsTer?
ENST00000618469.2:c.4412del ENSP00000478114.2:p.Gly1471AlafsTer?
ENST00000634433.2:c.4289del ENSP00000489431.2:p.Gly1430AlafsTer?
ENST00000644379.2:c.4478del ENSP00000496570.2:p.Gly1493AlafsTer?
ENST00000644555.2:c.962del ENSP00000494614.2:p.Gly321AlafsTer?
ENST00000652672.2:c.4271del ENSP00000498906.2:p.Gly1424AlafsTer?
ENST00000484087.6:c.974del ENSP00000419481.2:p.Gly325AlafsTer?
ENST00000700182.1:c.1019del ENSP00000514849.1:p.Gly340AlafsTer?
ENST00000357654.9:c.4412del MANE Select ENSP00000350283.3:p.Gly1471AlafsTer?
ENST00000471181.7:c.4475del ENSP00000418960.2:p.Gly1492AlafsTer?
ENST00000644379.1:c.799del
ENST00000352993.7:c.986del ENSP00000312236.5:p.Gly329AlafsTer?
ENST00000357654.7:c.4412del ENSP00000350283.3:p.Gly1471AlafsTer?
ENST00000461221.5:c.*4195del ENSP00000418548.1:n.*4195del
ENST00000461574.1:c.703del
ENST00000468300.5:c.1100del ENSP00000417148.1:p.Gly367AlafsTer?
ENST00000471181.6:c.4475del ENSP00000418960.2:p.Gly1492AlafsTer?
ENST00000478531.5:c.1100del ENSP00000420412.1:p.Gly367AlafsTer?
ENST00000484087.5:c.725del ENSP00000419481.1:p.Gly242AlafsTer?
ENST00000487825.5:c.728del ENSP00000418212.1:p.Gly243AlafsTer?
ENST00000491747.6:c.1100del ENSP00000420705.2:p.Gly367AlafsTer?
ENST00000493795.5:c.4271del ENSP00000418775.1:p.Gly1424AlafsTer?
ENST00000493919.5:c.962del ENSP00000418819.1:p.Gly321AlafsTer?
ENST00000586385.5:c.5-12609del ENSP00000465818.1:n.5-12609del
ENST00000591534.5:c.-43-2039del ENSP00000467329.1:n.-43-2039del
ENST00000591849.5:c.-98-26370del ENSP00000465347.1:n.-98-26370del
ENST00000621897.1:n.303del
NM_007294.3:c.4412del , LRG_292t1:c.4412del NP_009225.1:p.Gly1471AlafsTer?
NM_007297.3:c.4271del NP_009228.2:p.Gly1424AlafsTer?
NM_007298.3:c.1100del NP_009229.2:p.Gly367AlafsTer?
NM_007299.3:c.1100del NP_009230.2:p.Gly367AlafsTer?
NM_007300.3:c.4475del NP_009231.2:p.Gly1492AlafsTer?
NR_027676.1:n.4548del
NM_007294.4:c.4412del MANE Select NP_009225.1:p.Gly1471AlafsTer?
NM_007297.4:c.4271del NP_009228.2:p.Gly1424AlafsTer?
NM_007299.4:c.1100del NP_009230.2:p.Gly367AlafsTer?
NM_007300.4:c.4475del NP_009231.2:p.Gly1492AlafsTer?
NR_027676.2:n.4589del