Canonical Allele Identifier: CA16042164
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371936
dbSNP Id: rs1057517590

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063370del , CM000679.2:g.43063370del GRCh38
NC_000017.10:g.41215387del , CM000679.1:g.41215387del GRCh37
NC_000017.9:g.38468913del NCBI36
NG_005905.2:g.154614del , LRG_292:g.154614del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5153del ENSP00000417241.2:p.Val1718GlyfsTer11
ENST00000470026.6:c.5156del ENSP00000419274.2:p.Val1719GlyfsTer11
ENST00000473961.6:c.5030del ENSP00000420201.2:p.Val1677GlyfsTer11
ENST00000476777.6:c.5150del ENSP00000417554.2:p.Val1717GlyfsTer11
ENST00000477152.6:c.5078del ENSP00000419988.2:p.Val1693GlyfsTer11
ENST00000478531.6:c.1844del ENSP00000420412.2:p.Val615GlyfsTer11
ENST00000489037.2:c.5078del ENSP00000420781.2:p.Val1693GlyfsTer11
ENST00000493919.6:c.1706del ENSP00000418819.2:p.Val569GlyfsTer11
ENST00000494123.6:c.5156del ENSP00000419103.2:p.Val1719GlyfsTer11
ENST00000497488.2:c.4268del ENSP00000418986.2:p.Val1423GlyfsTer11
ENST00000618469.2:c.5156del ENSP00000478114.2:p.Val1719GlyfsTer11
ENST00000634433.2:c.5033del ENSP00000489431.2:p.Val1678GlyfsTer11
ENST00000644379.2:c.5222del ENSP00000496570.2:p.Val1741GlyfsTer11
ENST00000644555.2:c.1706del ENSP00000494614.2:p.Val569GlyfsTer11
ENST00000652672.2:c.5015del ENSP00000498906.2:p.Val1672GlyfsTer11
ENST00000484087.6:c.1718del ENSP00000419481.2:p.Val573GlyfsTer11
ENST00000357654.9:c.5156del MANE Select ENSP00000350283.3:p.Val1719GlyfsTer11
ENST00000471181.7:c.5219del ENSP00000418960.2:p.Val1740GlyfsTer11
ENST00000644379.1:c.1543del
ENST00000352993.7:c.1730del ENSP00000312236.5:p.Val577GlyfsTer11
ENST00000357654.7:c.5156del ENSP00000350283.3:p.Val1719GlyfsTer11
ENST00000461221.5:c.*4939del ENSP00000418548.1:n.*4939del
ENST00000468300.5:c.1844del ENSP00000417148.1:p.Val615GlyfsTer11
ENST00000471181.6:c.5219del ENSP00000418960.2:p.Val1740GlyfsTer11
ENST00000478531.5:c.1844del ENSP00000420412.1:p.Val615GlyfsTer?
ENST00000484087.5:c.1469del ENSP00000419481.1:p.Val490GlyfsTer?
ENST00000491747.6:c.1844del ENSP00000420705.2:p.Val615GlyfsTer11
ENST00000493795.5:c.5015del ENSP00000418775.1:p.Val1672GlyfsTer11
ENST00000493919.5:c.1706del ENSP00000418819.1:p.Val569GlyfsTer?
ENST00000586385.5:c.86del ENSP00000465818.1:p.Val29GlyfsTer11
ENST00000591534.5:c.629del ENSP00000467329.1:p.Val210GlyfsTer11
ENST00000591849.5:c.-98-13180del ENSP00000465347.1:n.-98-13180del
NM_007294.3:c.5156del , LRG_292t1:c.5156del NP_009225.1:p.Val1719GlyfsTer11
NM_007297.3:c.5015del NP_009228.2:p.Val1672GlyfsTer11
NM_007298.3:c.1844del NP_009229.2:p.Val615GlyfsTer11
NM_007299.3:c.1844del NP_009230.2:p.Val615GlyfsTer11
NM_007300.3:c.5219del NP_009231.2:p.Val1740GlyfsTer11
NR_027676.1:n.5292del
NM_007294.4:c.5156del MANE Select NP_009225.1:p.Val1719GlyfsTer11
NM_007297.4:c.5015del NP_009228.2:p.Val1672GlyfsTer11
NM_007299.4:c.1844del NP_009230.2:p.Val615GlyfsTer11
NM_007300.4:c.5219del NP_009231.2:p.Val1740GlyfsTer11
NR_027676.2:n.5333del