Canonical Allele Identifier: CA2260784621
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094114_43094115delinsTG , CM000679.2:g.43094114_43094115delinsTG GRCh38
NC_000017.10:g.41246131_41246132delinsTG , CM000679.1:g.41246131_41246132delinsTG GRCh37
NC_000017.9:g.38499657_38499658delinsTG NCBI36
NG_005905.2:g.123869_123870delinsCA , LRG_292:g.123869_123870delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1480_1481delinsCA
ENST00000461574.2:c.1416_1417delinsCA ENSP00000417241.2:p.Pro472=
ENST00000470026.6:c.1416_1417delinsCA ENSP00000419274.2:p.Pro472=
ENST00000473961.6:c.1290_1291delinsCA ENSP00000420201.2:p.Pro430=
ENST00000476777.6:c.1413_1414delinsCA ENSP00000417554.2:p.Pro471=
ENST00000477152.6:c.1338_1339delinsCA ENSP00000419988.2:p.Pro446=
ENST00000478531.6:c.784+629_784+630delinsCA ENSP00000420412.2:n.784+629_784+630delins...
ENST00000489037.2:c.1338_1339delinsCA ENSP00000420781.2:p.Pro446=
ENST00000493919.6:c.646+629_646+630delinsCA ENSP00000418819.2:n.646+629_646+630delins...
ENST00000494123.6:c.1416_1417delinsCA ENSP00000419103.2:p.Pro472=
ENST00000497488.2:c.528_529delinsCA ENSP00000418986.2:p.Pro176=
ENST00000618469.2:c.1416_1417delinsCA ENSP00000478114.2:p.Pro472=
ENST00000634433.2:c.1293_1294delinsCA ENSP00000489431.2:p.Pro431=
ENST00000644379.2:c.1416_1417delinsCA ENSP00000496570.2:p.Pro472=
ENST00000644555.2:c.646+629_646+630delinsCA ENSP00000494614.2:n.646+629_646+630delins...
ENST00000652672.2:c.1275_1276delinsCA ENSP00000498906.2:p.Pro425=
ENST00000484087.6:c.664+629_664+630delinsCA ENSP00000419481.2:n.664+629_664+630delins...
ENST00000700182.1:c.706+629_706+630delinsCA ENSP00000514849.1:n.706+629_706+630delins...
ENST00000700183.1:c.*1424_*1425delinsCA ENSP00000514850.1:n.*1424_*1425delinsCA
ENST00000357654.9:c.1416_1417delinsCA MANE Select ENSP00000350283.3:p.Pro472=
ENST00000471181.7:c.1416_1417delinsCA ENSP00000418960.2:p.Pro472=
ENST00000652672.1:c.1275_1276delinsCA ENSP00000498906.1:p.Pro425=
ENST00000352993.7:c.670+1731_670+1732delinsCA ENSP00000312236.5:n.670+1731_670+1732deli...
ENST00000354071.7:c.1416_1417delinsCA ENSP00000326002.7:p.Pro472=
ENST00000357654.7:c.1416_1417delinsCA ENSP00000350283.3:p.Pro472=
ENST00000412061.3:c.767_768delinsCA
ENST00000461221.5:c.*1199_*1200delinsCA ENSP00000418548.1:n.*1199_*1200delinsCA
ENST00000468300.5:c.787+629_787+630delinsCA ENSP00000417148.1:n.787+629_787+630delins...
ENST00000470026.5:c.1416_1417delinsCA ENSP00000419274.1:p.Pro472=
ENST00000471181.6:c.1416_1417delinsCA ENSP00000418960.2:p.Pro472=
ENST00000477152.5:c.1338_1339delinsCA ENSP00000419988.1:p.Pro446=
ENST00000478531.5:c.784+629_784+630delinsCA ENSP00000420412.1:n.784+629_784+630delins...
ENST00000484087.5:c.409+629_409+630delinsCA ENSP00000419481.1:n.409+629_409+630delins...
ENST00000487825.5:c.412+629_412+630delinsCA ENSP00000418212.1:n.412+629_412+630delins...
ENST00000491747.6:c.787+629_787+630delinsCA ENSP00000420705.2:n.787+629_787+630delins...
ENST00000492859.5:c.*1352_*1353delinsCA ENSP00000420253.1:n.*1352_*1353delinsCA
ENST00000493795.5:c.1275_1276delinsCA ENSP00000418775.1:p.Pro425=
ENST00000493919.5:c.646+629_646+630delinsCA ENSP00000418819.1:n.646+629_646+630delins...
ENST00000494123.5:c.1416_1417delinsCA ENSP00000419103.1:p.Pro472=
ENST00000497488.1:c.528_529delinsCA ENSP00000418986.1:p.Pro176=
ENST00000586385.5:c.5-30164_5-30163delinsCA ENSP00000465818.1:n.5-30164_5-30163delins...
ENST00000591534.5:c.-43-19594_-43-19593delinsCA ENSP00000467329.1:n.-43-19594_-43-19593de...
ENST00000591849.5:c.-99+31156_-99+31157delinsCA ENSP00000465347.1:n.-99+31156_-99+31157de...
ENST00000634433.1:c.1293_1294delinsCA ENSP00000489431.1:p.Pro431=
NM_007294.3:c.1416_1417delinsCA , LRG_292t1:c.1416_1417delinsCA NP_009225.1:p.Pro472=
NM_007297.3:c.1275_1276delinsCA NP_009228.2:p.Pro425=
NM_007298.3:c.787+629_787+630delinsCA NP_009229.2:n.787+629_787+630delinsCA
NM_007299.3:c.787+629_787+630delinsCA NP_009230.2:n.787+629_787+630delinsCA
NM_007300.3:c.1416_1417delinsCA NP_009231.2:p.Pro472=
NR_027676.1:n.1552_1553delinsCA
NM_007294.4:c.1416_1417delinsCA MANE Select NP_009225.1:p.Pro472=
NM_007297.4:c.1275_1276delinsCA NP_009228.2:p.Pro425=
NM_007299.4:c.787+629_787+630delinsCA NP_009230.2:n.787+629_787+630delinsCA
NM_007300.4:c.1416_1417delinsCA NP_009231.2:p.Pro472=
NR_027676.2:n.1593_1594delinsCA