Canonical Allele Identifier: CA003997
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 125481
dbSNP Id: rs80357775

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094546_43094547insG , CM000679.2:g.43094546_43094547insG GRCh38
NC_000017.10:g.41246563_41246564insG , CM000679.1:g.41246563_41246564insG GRCh37
NC_000017.9:g.38500089_38500090insG NCBI36
NG_005905.2:g.123437_123438insC , LRG_292:g.123437_123438insC

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1048_1049insC
ENST00000461574.2:c.984_985insC ENSP00000417241.2:p.Asn329GlnfsTer2
ENST00000470026.6:c.984_985insC ENSP00000419274.2:p.Asn329GlnfsTer2
ENST00000473961.6:c.858_859insC ENSP00000420201.2:p.Asn287GlnfsTer2
ENST00000476777.6:c.981_982insC ENSP00000417554.2:p.Asn328GlnfsTer2
ENST00000477152.6:c.906_907insC ENSP00000419988.2:p.Asn303GlnfsTer2
ENST00000478531.6:c.784+197_784+198insC ENSP00000420412.2:n.784+197_784+198insC
ENST00000489037.2:c.906_907insC ENSP00000420781.2:p.Asn303GlnfsTer2
ENST00000493919.6:c.646+197_646+198insC ENSP00000418819.2:n.646+197_646+198insC
ENST00000494123.6:c.984_985insC ENSP00000419103.2:p.Asn329GlnfsTer2
ENST00000497488.2:c.96_97insC ENSP00000418986.2:p.Asn33GlnfsTer2
ENST00000618469.2:c.984_985insC ENSP00000478114.2:p.Asn329GlnfsTer2
ENST00000634433.2:c.861_862insC ENSP00000489431.2:p.Asn288GlnfsTer2
ENST00000644379.2:c.984_985insC ENSP00000496570.2:p.Asn329GlnfsTer2
ENST00000644555.2:c.646+197_646+198insC ENSP00000494614.2:n.646+197_646+198insC
ENST00000652672.2:c.843_844insC ENSP00000498906.2:p.Asn282GlnfsTer2
ENST00000484087.6:c.664+197_664+198insC ENSP00000419481.2:n.664+197_664+198insC
ENST00000700182.1:c.706+197_706+198insC ENSP00000514849.1:n.706+197_706+198insC
ENST00000700183.1:c.*992_*993insC ENSP00000514850.1:n.*992_*993insC
ENST00000357654.9:c.984_985insC MANE Select ENSP00000350283.3:p.Asn329GlnfsTer2
ENST00000471181.7:c.984_985insC ENSP00000418960.2:p.Asn329GlnfsTer2
ENST00000642945.1:c.*858_*859insC ENSP00000495897.1:n.*858_*859insC
ENST00000652672.1:c.843_844insC ENSP00000498906.1:p.Asn282GlnfsTer2
ENST00000352993.7:c.670+1299_670+1300insC ENSP00000312236.5:n.670+1299_670+1300insC...
ENST00000354071.7:c.984_985insC ENSP00000326002.7:p.Asn329GlnfsTer2
ENST00000357654.7:c.984_985insC ENSP00000350283.3:p.Asn329GlnfsTer2
ENST00000412061.3:c.335_336insC
ENST00000461221.5:c.*767_*768insC ENSP00000418548.1:n.*767_*768insC
ENST00000468300.5:c.787+197_787+198insC ENSP00000417148.1:n.787+197_787+198insC
ENST00000470026.5:c.984_985insC ENSP00000419274.1:p.Asn329GlnfsTer2
ENST00000471181.6:c.984_985insC ENSP00000418960.2:p.Asn329GlnfsTer2
ENST00000473961.5:c.581_582insC
ENST00000477152.5:c.906_907insC ENSP00000419988.1:p.Asn303GlnfsTer2
ENST00000478531.5:c.784+197_784+198insC ENSP00000420412.1:n.784+197_784+198insC
ENST00000484087.5:c.409+197_409+198insC ENSP00000419481.1:n.409+197_409+198insC
ENST00000487825.5:c.412+197_412+198insC ENSP00000418212.1:n.412+197_412+198insC
ENST00000491747.6:c.787+197_787+198insC ENSP00000420705.2:n.787+197_787+198insC
ENST00000492859.5:c.*920_*921insC ENSP00000420253.1:n.*920_*921insC
ENST00000493795.5:c.843_844insC ENSP00000418775.1:p.Asn282GlnfsTer2
ENST00000493919.5:c.646+197_646+198insC ENSP00000418819.1:n.646+197_646+198insC
ENST00000494123.5:c.984_985insC ENSP00000419103.1:p.Asn329GlnfsTer2
ENST00000497488.1:c.96_97insC ENSP00000418986.1:p.Asn33GlnfsTer2
ENST00000586385.5:c.5-30596_5-30595insC ENSP00000465818.1:n.5-30596_5-30595insC
ENST00000591534.5:c.-43-20026_-43-20025insC ENSP00000467329.1:n.-43-20026_-43-20025in...
ENST00000591849.5:c.-99+30724_-99+30725insC ENSP00000465347.1:n.-99+30724_-99+30725in...
ENST00000634433.1:c.861_862insC ENSP00000489431.1:p.Asn288GlnfsTer2
NM_007294.3:c.984_985insC , LRG_292t1:c.984_985insC NP_009225.1:p.Asn329GlnfsTer2
NM_007297.3:c.843_844insC NP_009228.2:p.Asn282GlnfsTer2
NM_007298.3:c.787+197_787+198insC NP_009229.2:n.787+197_787+198insC
NM_007299.3:c.787+197_787+198insC NP_009230.2:n.787+197_787+198insC
NM_007300.3:c.984_985insC NP_009231.2:p.Asn329GlnfsTer2
NR_027676.1:n.1120_1121insC
NM_007294.4:c.984_985insC MANE Select NP_009225.1:p.Asn329GlnfsTer2
NM_007297.4:c.843_844insC NP_009228.2:p.Asn282GlnfsTer2
NM_007299.4:c.787+197_787+198insC NP_009230.2:n.787+197_787+198insC
NM_007300.4:c.984_985insC NP_009231.2:p.Asn329GlnfsTer2
NR_027676.2:n.1161_1162insC