Canonical Allele Identifier: CA003415
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 254466
dbSNP Id: rs80357732

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43057055del , CM000679.2:g.43057055del GRCh38
NC_000017.10:g.41209072del , CM000679.1:g.41209072del GRCh37
NC_000017.9:g.38462598del NCBI36
NG_005905.2:g.160931del , LRG_292:g.160931del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5273del ENSP00000417241.2:p.Lys1758ArgfsTer6
ENST00000470026.6:c.5276del ENSP00000419274.2:p.Lys1759ArgfsTer6
ENST00000473961.6:c.5150del ENSP00000420201.2:p.Lys1717ArgfsTer6
ENST00000476777.6:c.5270del ENSP00000417554.2:p.Lys1757ArgfsTer6
ENST00000477152.6:c.5198del ENSP00000419988.2:p.Lys1733ArgfsTer6
ENST00000478531.6:c.1964del ENSP00000420412.2:p.Lys655ArgfsTer6
ENST00000489037.2:c.5198del ENSP00000420781.2:p.Lys1733ArgfsTer6
ENST00000493919.6:c.1826del ENSP00000418819.2:p.Lys609ArgfsTer6
ENST00000494123.6:c.5276del ENSP00000419103.2:p.Lys1759ArgfsTer6
ENST00000497488.2:c.4388del ENSP00000418986.2:p.Lys1463ArgfsTer6
ENST00000618469.2:c.5276del ENSP00000478114.2:p.Lys1759ArgfsTer6
ENST00000634433.2:c.5153del ENSP00000489431.2:p.Lys1718ArgfsTer6
ENST00000644379.2:c.5342del ENSP00000496570.2:p.Lys1781ArgfsTer6
ENST00000644555.2:c.1826del ENSP00000494614.2:p.Lys609ArgfsTer6
ENST00000652672.2:c.5135del ENSP00000498906.2:p.Lys1712ArgfsTer6
ENST00000484087.6:c.1838del ENSP00000419481.2:p.Lys613ArgfsTer6
ENST00000357654.9:c.5276del MANE Select ENSP00000350283.3:p.Lys1759ArgfsTer6
ENST00000471181.7:c.5339del ENSP00000418960.2:p.Lys1780ArgfsTer6
ENST00000644379.1:c.1663del
ENST00000352993.7:c.1850del ENSP00000312236.5:p.Lys617ArgfsTer6
ENST00000357654.7:c.5276del ENSP00000350283.3:p.Lys1759ArgfsTer6
ENST00000461221.5:c.*5059del ENSP00000418548.1:n.*5059del
ENST00000468300.5:c.1964del ENSP00000417148.1:p.Lys655ArgfsTer6
ENST00000471181.6:c.5339del ENSP00000418960.2:p.Lys1780ArgfsTer6
ENST00000491747.6:c.1964del ENSP00000420705.2:p.Lys655ArgfsTer6
ENST00000493795.5:c.5135del ENSP00000418775.1:p.Lys1712ArgfsTer6
ENST00000586385.5:c.206del ENSP00000465818.1:p.Lys69ArgfsTer6
ENST00000591534.5:c.749del ENSP00000467329.1:p.Lys250ArgfsTer6
ENST00000591849.5:c.-98-6863del ENSP00000465347.1:n.-98-6863del
NM_007294.3:c.5276del , LRG_292t1:c.5276del NP_009225.1:p.Lys1759ArgfsTer6
NM_007297.3:c.5135del NP_009228.2:p.Lys1712ArgfsTer6
NM_007298.3:c.1964del NP_009229.2:p.Lys655ArgfsTer6
NM_007299.3:c.1964del NP_009230.2:p.Lys655ArgfsTer6
NM_007300.3:c.5339del NP_009231.2:p.Lys1780ArgfsTer6
NR_027676.1:n.5412del
NM_007294.4:c.5276del MANE Select NP_009225.1:p.Lys1759ArgfsTer6
NM_007297.4:c.5135del NP_009228.2:p.Lys1712ArgfsTer6
NM_007299.4:c.1964del NP_009230.2:p.Lys655ArgfsTer6
NM_007300.4:c.5339del NP_009231.2:p.Lys1780ArgfsTer6
NR_027676.2:n.5453del