Canonical Allele Identifier: CA003507
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37657
dbSNP Id: rs80357590

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43049192del , CM000679.2:g.43049192del GRCh38
NC_000017.10:g.41201209del , CM000679.1:g.41201209del GRCh37
NC_000017.9:g.38454735del NCBI36
NG_005905.2:g.168792del , LRG_292:g.168792del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5332del ENSP00000417241.2:p.Gln1778AsnfsTer14
ENST00000470026.6:c.5335del ENSP00000419274.2:p.Gln1779AsnfsTer14
ENST00000473961.6:c.5209del ENSP00000420201.2:p.Gln1737AsnfsTer14
ENST00000476777.6:c.5329del ENSP00000417554.2:p.Gln1777AsnfsTer14
ENST00000477152.6:c.5257del ENSP00000419988.2:p.Gln1753AsnfsTer14
ENST00000478531.6:c.2023del ENSP00000420412.2:p.Gln675AsnfsTer14
ENST00000489037.2:c.5257del ENSP00000420781.2:p.Gln1753AsnfsTer14
ENST00000493919.6:c.1885del ENSP00000418819.2:p.Gln629AsnfsTer14
ENST00000494123.6:c.5335del ENSP00000419103.2:p.Gln1779AsnfsTer14
ENST00000497488.2:c.4447del ENSP00000418986.2:p.Gln1483AsnfsTer14
ENST00000618469.2:c.5335del ENSP00000478114.2:p.Gln1779AsnfsTer14
ENST00000634433.2:c.5212del ENSP00000489431.2:p.Gln1738AsnfsTer14
ENST00000644379.2:c.5401del ENSP00000496570.2:p.Gln1801AsnfsTer14
ENST00000644555.2:c.1885del ENSP00000494614.2:p.Gln629AsnfsTer14
ENST00000652672.2:c.5194del ENSP00000498906.2:p.Gln1732AsnfsTer14
ENST00000484087.6:c.1897del ENSP00000419481.2:p.Gln633AsnfsTer14
ENST00000700081.1:n.1218del
ENST00000357654.9:c.5335del MANE Select ENSP00000350283.3:p.Gln1779AsnfsTer14
ENST00000471181.7:c.5398del ENSP00000418960.2:p.Gln1800AsnfsTer14
ENST00000644379.1:c.1722del
ENST00000352993.7:c.1909del ENSP00000312236.5:p.Gln637AsnfsTer14
ENST00000357654.7:c.5335del ENSP00000350283.3:p.Gln1779AsnfsTer14
ENST00000461221.5:c.*5118del ENSP00000418548.1:n.*5118del
ENST00000468300.5:c.2021-1489del ENSP00000417148.1:n.2021-1489del
ENST00000471181.6:c.5398del ENSP00000418960.2:p.Gln1800AsnfsTer14
ENST00000491747.6:c.2023del ENSP00000420705.2:p.Gln675AsnfsTer14
ENST00000493795.5:c.5194del ENSP00000418775.1:p.Gln1732AsnfsTer14
ENST00000586385.5:c.265del ENSP00000465818.1:p.Gln89AsnfsTer14
ENST00000591534.5:c.808del ENSP00000467329.1:p.Gln270AsnfsTer14
ENST00000591849.5:c.34del ENSP00000465347.1:p.Gln12AsnfsTer14
NM_007294.3:c.5335del , LRG_292t1:c.5335del NP_009225.1:p.Gln1779AsnfsTer14
NM_007297.3:c.5194del NP_009228.2:p.Gln1732AsnfsTer14
NM_007298.3:c.2023del NP_009229.2:p.Gln675AsnfsTer14
NM_007299.3:c.2021-1489del NP_009230.2:n.2021-1489del
NM_007300.3:c.5398del NP_009231.2:p.Gln1800AsnfsTer14
NR_027676.1:n.5471del
NM_007294.4:c.5335del MANE Select NP_009225.1:p.Gln1779AsnfsTer14
NM_007297.4:c.5194del NP_009228.2:p.Gln1732AsnfsTer14
NM_007299.4:c.2021-1489del NP_009230.2:n.2021-1489del
NM_007300.4:c.5398del NP_009231.2:p.Gln1800AsnfsTer14
NR_027676.2:n.5512del