Canonical Allele Identifier: CA1139664794
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 945661
dbSNP Id: rs2053936273

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094079_43094133dup , CM000679.2:g.43094079_43094133dup GRCh38
NC_000017.10:g.41246096_41246150dup , CM000679.1:g.41246096_41246150dup GRCh37
NC_000017.9:g.38499622_38499676dup NCBI36
NG_005905.2:g.123852_123906dup , LRG_292:g.123852_123906dup

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1463_1517dup
ENST00000461574.2:c.1399_1453dup ENSP00000417241.2:p.Ala485GlufsTer13
ENST00000470026.6:c.1399_1453dup ENSP00000419274.2:p.Ala485GlufsTer13
ENST00000473961.6:c.1273_1327dup ENSP00000420201.2:p.Ala443GlufsTer13
ENST00000476777.6:c.1396_1450dup ENSP00000417554.2:p.Ala484GlufsTer13
ENST00000477152.6:c.1321_1375dup ENSP00000419988.2:p.Ala459GlufsTer13
ENST00000478531.6:c.784+612_784+666dup ENSP00000420412.2:n.784+612_784+666dup
ENST00000489037.2:c.1321_1375dup ENSP00000420781.2:p.Ala459GlufsTer13
ENST00000493919.6:c.646+612_646+666dup ENSP00000418819.2:n.646+612_646+666dup
ENST00000494123.6:c.1399_1453dup ENSP00000419103.2:p.Ala485GlufsTer13
ENST00000497488.2:c.511_565dup ENSP00000418986.2:p.Ala189GlufsTer13
ENST00000618469.2:c.1399_1453dup ENSP00000478114.2:p.Ala485GlufsTer13
ENST00000634433.2:c.1276_1330dup ENSP00000489431.2:p.Ala444GlufsTer13
ENST00000644379.2:c.1399_1453dup ENSP00000496570.2:p.Ala485GlufsTer13
ENST00000644555.2:c.646+612_646+666dup ENSP00000494614.2:n.646+612_646+666dup
ENST00000652672.2:c.1258_1312dup ENSP00000498906.2:p.Ala438GlufsTer13
ENST00000484087.6:c.664+612_664+666dup ENSP00000419481.2:n.664+612_664+666dup
ENST00000700182.1:c.706+612_706+666dup ENSP00000514849.1:n.706+612_706+666dup
ENST00000700183.1:c.*1407_*1461dup ENSP00000514850.1:n.*1407_*1461dup
ENST00000357654.9:c.1399_1453dup MANE Select ENSP00000350283.3:p.Ala485GlufsTer13
ENST00000471181.7:c.1399_1453dup ENSP00000418960.2:p.Ala485GlufsTer13
ENST00000652672.1:c.1258_1312dup ENSP00000498906.1:p.Ala438GlufsTer13
ENST00000352993.7:c.670+1714_670+1768dup ENSP00000312236.5:n.670+1714_670+1768dup
ENST00000354071.7:c.1399_1453dup ENSP00000326002.7:p.Ala485GlufsTer13
ENST00000357654.7:c.1399_1453dup ENSP00000350283.3:p.Ala485GlufsTer13
ENST00000412061.3:c.750_804dup
ENST00000461221.5:c.*1182_*1236dup ENSP00000418548.1:n.*1182_*1236dup
ENST00000468300.5:c.787+612_787+666dup ENSP00000417148.1:n.787+612_787+666dup
ENST00000470026.5:c.1399_1453dup ENSP00000419274.1:p.Ala485GlufsTer13
ENST00000471181.6:c.1399_1453dup ENSP00000418960.2:p.Ala485GlufsTer13
ENST00000477152.5:c.1321_1375dup ENSP00000419988.1:p.Ala459GlufsTer13
ENST00000478531.5:c.784+612_784+666dup ENSP00000420412.1:n.784+612_784+666dup
ENST00000484087.5:c.409+612_409+666dup ENSP00000419481.1:n.409+612_409+666dup
ENST00000487825.5:c.412+612_412+666dup ENSP00000418212.1:n.412+612_412+666dup
ENST00000491747.6:c.787+612_787+666dup ENSP00000420705.2:n.787+612_787+666dup
ENST00000493795.5:c.1258_1312dup ENSP00000418775.1:p.Ala438GlufsTer13
ENST00000493919.5:c.646+612_646+666dup ENSP00000418819.1:n.646+612_646+666dup
ENST00000586385.5:c.5-30181_5-30127dup ENSP00000465818.1:n.5-30181_5-30127dup
ENST00000591534.5:c.-43-19611_-43-19557dup ENSP00000467329.1:n.-43-19611_-43-19557du...
ENST00000591849.5:c.-99+31139_-99+31193dup ENSP00000465347.1:n.-99+31139_-99+31193du...
ENST00000634433.1:c.1276_1330dup ENSP00000489431.1:p.Ala444GlufsTer13
NM_007294.3:c.1399_1453dup , LRG_292t1:c.1399_1453dup NP_009225.1:p.Ala485GlufsTer13
NM_007297.3:c.1258_1312dup NP_009228.2:p.Ala438GlufsTer13
NM_007298.3:c.787+612_787+666dup NP_009229.2:n.787+612_787+666dup
NM_007299.3:c.787+612_787+666dup NP_009230.2:n.787+612_787+666dup
NM_007300.3:c.1399_1453dup NP_009231.2:p.Ala485GlufsTer13
NR_027676.1:n.1535_1589dup
NM_007294.4:c.1399_1453dup MANE Select NP_009225.1:p.Ala485GlufsTer13
NM_007297.4:c.1258_1312dup NP_009228.2:p.Ala438GlufsTer13
NM_007299.4:c.787+612_787+666dup NP_009230.2:n.787+612_787+666dup
NM_007300.4:c.1399_1453dup NP_009231.2:p.Ala485GlufsTer13
NR_027676.2:n.1576_1630dup