Canonical Allele Identifier: CA2260782284
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091783_43091817delinsCGGTAGCAACGGTGCTATGCCTAGTAGACTGAGAA , CM000679.2:g.43091783_43091817delinsCGGTAGCAACGGTGCTATGCCTAGTAGACTGAGAA GRCh38
NC_000017.10:g.41243800_41243834delinsCGGTAGCAACGGTGCTATGCCTAGTAGACTGAGAA , CM000679.1:g.41243800_41243834delinsCGGTAGCAACGGTGCTATGCCTAGTAGACTGAGAA GRCh37
NC_000017.9:g.38497326_38497360delinsCGGTAGCAACGGTGCTATGCCTAGTAGACTGAGAA NCBI36
NG_005905.2:g.126167_126201delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG , LRG_292:g.126167_126201delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3778_3812delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG
ENST00000461574.2:c.3714_3748delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000417241.2:p.Pro1238=
ENST00000470026.6:c.3714_3748delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000419274.2:p.Pro1238=
ENST00000473961.6:c.3588_3622delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000420201.2:p.Pro1196=
ENST00000476777.6:c.3711_3745delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000417554.2:p.Pro1237=
ENST00000477152.6:c.3636_3670delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000419988.2:p.Pro1212=
ENST00000478531.6:c.785-785_785-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000420412.2:n.785-785_785-751delins...
ENST00000489037.2:c.3636_3670delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000420781.2:p.Pro1212=
ENST00000493919.6:c.647-785_647-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000418819.2:n.647-785_647-751delins...
ENST00000494123.6:c.3714_3748delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000419103.2:p.Pro1238=
ENST00000497488.2:c.2826_2860delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000418986.2:p.Pro942=
ENST00000618469.2:c.3714_3748delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000478114.2:p.Pro1238=
ENST00000634433.2:c.3591_3625delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000489431.2:p.Pro1197=
ENST00000644379.2:c.3714_3748delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000496570.2:p.Pro1238=
ENST00000644555.2:c.647-785_647-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000494614.2:n.647-785_647-751delins...
ENST00000652672.2:c.3573_3607delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000498906.2:p.Pro1191=
ENST00000484087.6:c.665-785_665-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000419481.2:n.665-785_665-751delins...
ENST00000700182.1:c.707-785_707-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000514849.1:n.707-785_707-751delins...
ENST00000357654.9:c.3714_3748delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG MANE Select ENSP00000350283.3:p.Pro1238=
ENST00000471181.7:c.3714_3748delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000418960.2:p.Pro1238=
ENST00000644379.1:c.35_69delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG
ENST00000352993.7:c.671-785_671-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000312236.5:n.671-785_671-751delins...
ENST00000354071.7:c.3714_3748delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000326002.7:p.Pro1238=
ENST00000357654.7:c.3714_3748delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000350283.3:p.Pro1238=
ENST00000461221.5:c.*3497_*3531delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000418548.1:n.*3497_*3531delinsTTCT...
ENST00000461574.1:c.8_42delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG
ENST00000468300.5:c.788-785_788-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000417148.1:n.788-785_788-751delins...
ENST00000471181.6:c.3714_3748delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000418960.2:p.Pro1238=
ENST00000478531.5:c.785-785_785-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000420412.1:n.785-785_785-751delins...
ENST00000484087.5:c.410-785_410-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000419481.1:n.410-785_410-751delins...
ENST00000487825.5:c.413-785_413-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000418212.1:n.413-785_413-751delins...
ENST00000491747.6:c.788-785_788-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000420705.2:n.788-785_788-751delins...
ENST00000493795.5:c.3573_3607delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000418775.1:p.Pro1191=
ENST00000493919.5:c.647-785_647-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000418819.1:n.647-785_647-751delins...
ENST00000586385.5:c.5-27866_5-27832delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000465818.1:n.5-27866_5-27832delins...
ENST00000591534.5:c.-43-17296_-43-17262delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000467329.1:n.-43-17296_-43-17262de...
ENST00000591849.5:c.-99+33454_-99+33488delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG ENSP00000465347.1:n.-99+33454_-99+33488de...
NM_007294.3:c.3714_3748delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG , LRG_292t1:c.3714_3748delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG NP_009225.1:p.Pro1238=
NM_007297.3:c.3573_3607delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG NP_009228.2:p.Pro1191=
NM_007298.3:c.788-785_788-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG NP_009229.2:n.788-785_788-751delinsTTCTCA...
NM_007299.3:c.788-785_788-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG NP_009230.2:n.788-785_788-751delinsTTCTCA...
NM_007300.3:c.3714_3748delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG NP_009231.2:p.Pro1238=
NR_027676.1:n.3850_3884delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG
NM_007294.4:c.3714_3748delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG MANE Select NP_009225.1:p.Pro1238=
NM_007297.4:c.3573_3607delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG NP_009228.2:p.Pro1191=
NM_007299.4:c.788-785_788-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG NP_009230.2:n.788-785_788-751delinsTTCTCA...
NM_007300.4:c.3714_3748delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG NP_009231.2:p.Pro1238=
NR_027676.2:n.3891_3925delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG