Canonical Allele Identifier: CA273776
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 183180
ClinVar RCV Id: RCV000162049
dbSNP Id: rs730882167

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063359delinsAAA , CM000679.2:g.43063359delinsAAA GRCh38
NC_000017.10:g.41215376delinsAAA , CM000679.1:g.41215376delinsAAA GRCh37
NC_000017.9:g.38468902delinsAAA NCBI36
NG_005905.2:g.154625delinsTTT , LRG_292:g.154625delinsTTT

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5164delinsTTT ENSP00000417241.2:p.Ile1722PhefsTer8
ENST00000470026.6:c.5167delinsTTT ENSP00000419274.2:p.Ile1723PhefsTer8
ENST00000473961.6:c.5041delinsTTT ENSP00000420201.2:p.Ile1681PhefsTer8
ENST00000476777.6:c.5161delinsTTT ENSP00000417554.2:p.Ile1721PhefsTer8
ENST00000477152.6:c.5089delinsTTT ENSP00000419988.2:p.Ile1697PhefsTer8
ENST00000478531.6:c.1855delinsTTT ENSP00000420412.2:p.Ile619PhefsTer8
ENST00000489037.2:c.5089delinsTTT ENSP00000420781.2:p.Ile1697PhefsTer8
ENST00000493919.6:c.1717delinsTTT ENSP00000418819.2:p.Ile573PhefsTer8
ENST00000494123.6:c.5167delinsTTT ENSP00000419103.2:p.Ile1723PhefsTer8
ENST00000497488.2:c.4279delinsTTT ENSP00000418986.2:p.Ile1427PhefsTer8
ENST00000618469.2:c.5167delinsTTT ENSP00000478114.2:p.Ile1723PhefsTer8
ENST00000634433.2:c.5044delinsTTT ENSP00000489431.2:p.Ile1682PhefsTer8
ENST00000644379.2:c.5233delinsTTT ENSP00000496570.2:p.Ile1745PhefsTer8
ENST00000644555.2:c.1717delinsTTT ENSP00000494614.2:p.Ile573PhefsTer8
ENST00000652672.2:c.5026delinsTTT ENSP00000498906.2:p.Ile1676PhefsTer8
ENST00000484087.6:c.1729delinsTTT ENSP00000419481.2:p.Ile577PhefsTer8
ENST00000357654.9:c.5167delinsTTT MANE Select ENSP00000350283.3:p.Ile1723PhefsTer8
ENST00000471181.7:c.5230delinsTTT ENSP00000418960.2:p.Ile1744PhefsTer8
ENST00000644379.1:c.1554delinsTTT
ENST00000352993.7:c.1741delinsTTT ENSP00000312236.5:p.Ile581PhefsTer8
ENST00000357654.7:c.5167delinsTTT ENSP00000350283.3:p.Ile1723PhefsTer8
ENST00000461221.5:c.*4950delinsTTT ENSP00000418548.1:n.*4950delinsTTT
ENST00000468300.5:c.1855delinsTTT ENSP00000417148.1:p.Ile619PhefsTer8
ENST00000471181.6:c.5230delinsTTT ENSP00000418960.2:p.Ile1744PhefsTer8
ENST00000478531.5:c.1855delinsTTT ENSP00000420412.1:p.Ile619PhefsTer?
ENST00000484087.5:c.1480delinsTTT ENSP00000419481.1:p.Ile494PhefsTer?
ENST00000491747.6:c.1855delinsTTT ENSP00000420705.2:p.Ile619PhefsTer8
ENST00000493795.5:c.5026delinsTTT ENSP00000418775.1:p.Ile1676PhefsTer8
ENST00000586385.5:c.97delinsTTT ENSP00000465818.1:p.Ile33PhefsTer8
ENST00000591534.5:c.640delinsTTT ENSP00000467329.1:p.Ile214PhefsTer8
ENST00000591849.5:c.-98-13169delinsTTT ENSP00000465347.1:n.-98-13169delinsTTT
NM_007294.3:c.5167delinsTTT , LRG_292t1:c.5167delinsTTT NP_009225.1:p.Ile1723PhefsTer8
NM_007297.3:c.5026delinsTTT NP_009228.2:p.Ile1676PhefsTer8
NM_007298.3:c.1855delinsTTT NP_009229.2:p.Ile619PhefsTer8
NM_007299.3:c.1855delinsTTT NP_009230.2:p.Ile619PhefsTer8
NM_007300.3:c.5230delinsTTT NP_009231.2:p.Ile1744PhefsTer8
NR_027676.1:n.5303delinsTTT
NM_007294.4:c.5167delinsTTT MANE Select NP_009225.1:p.Ile1723PhefsTer8
NM_007297.4:c.5026delinsTTT NP_009228.2:p.Ile1676PhefsTer8
NM_007299.4:c.1855delinsTTT NP_009230.2:p.Ile619PhefsTer8
NM_007300.4:c.5230delinsTTT NP_009231.2:p.Ile1744PhefsTer8
NR_027676.2:n.5344delinsTTT