Canonical Allele Identifier: CA2260781997
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091517_43091518delinsCT , CM000679.2:g.43091517_43091518delinsCT GRCh38
NC_000017.10:g.41243534_41243535delinsCT , CM000679.1:g.41243534_41243535delinsCT GRCh37
NC_000017.9:g.38497060_38497061delinsCT NCBI36
NG_005905.2:g.126466_126467delinsAG , LRG_292:g.126466_126467delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4077_4078delinsAG
ENST00000461574.2:c.4013_4014delinsAG ENSP00000417241.2:p.Lys1338=
ENST00000470026.6:c.4013_4014delinsAG ENSP00000419274.2:p.Lys1338=
ENST00000473961.6:c.3887_3888delinsAG ENSP00000420201.2:p.Lys1296=
ENST00000476777.6:c.4010_4011delinsAG ENSP00000417554.2:p.Lys1337=
ENST00000477152.6:c.3935_3936delinsAG ENSP00000419988.2:p.Lys1312=
ENST00000478531.6:c.785-486_785-485delinsAG ENSP00000420412.2:n.785-486_785-485delinsAG
ENST00000489037.2:c.3935_3936delinsAG ENSP00000420781.2:p.Lys1312=
ENST00000493919.6:c.647-486_647-485delinsAG ENSP00000418819.2:n.647-486_647-485delinsAG
ENST00000494123.6:c.4013_4014delinsAG ENSP00000419103.2:p.Lys1338=
ENST00000497488.2:c.3125_3126delinsAG ENSP00000418986.2:p.Lys1042=
ENST00000618469.2:c.4013_4014delinsAG ENSP00000478114.2:p.Lys1338=
ENST00000634433.2:c.3890_3891delinsAG ENSP00000489431.2:p.Lys1297=
ENST00000644379.2:c.4013_4014delinsAG ENSP00000496570.2:p.Lys1338=
ENST00000644555.2:c.647-486_647-485delinsAG ENSP00000494614.2:n.647-486_647-485delinsAG
ENST00000652672.2:c.3872_3873delinsAG ENSP00000498906.2:p.Lys1291=
ENST00000484087.6:c.665-486_665-485delinsAG ENSP00000419481.2:n.665-486_665-485delinsAG
ENST00000700182.1:c.707-486_707-485delinsAG ENSP00000514849.1:n.707-486_707-485delinsAG
ENST00000357654.9:c.4013_4014delinsAG MANE Select ENSP00000350283.3:p.Lys1338=
ENST00000471181.7:c.4013_4014delinsAG ENSP00000418960.2:p.Lys1338=
ENST00000644379.1:c.334_335delinsAG
ENST00000352993.7:c.671-486_671-485delinsAG ENSP00000312236.5:n.671-486_671-485delinsAG
ENST00000354071.7:c.4013_4014delinsAG ENSP00000326002.7:p.Lys1338=
ENST00000357654.7:c.4013_4014delinsAG ENSP00000350283.3:p.Lys1338=
ENST00000461221.5:c.*3796_*3797delinsAG ENSP00000418548.1:n.*3796_*3797delinsAG
ENST00000461574.1:c.307_308delinsAG
ENST00000468300.5:c.788-486_788-485delinsAG ENSP00000417148.1:n.788-486_788-485delinsAG
ENST00000471181.6:c.4013_4014delinsAG ENSP00000418960.2:p.Lys1338=
ENST00000478531.5:c.785-486_785-485delinsAG ENSP00000420412.1:n.785-486_785-485delinsAG
ENST00000484087.5:c.410-486_410-485delinsAG ENSP00000419481.1:n.410-486_410-485delinsAG
ENST00000487825.5:c.413-486_413-485delinsAG ENSP00000418212.1:n.413-486_413-485delinsAG
ENST00000491747.6:c.788-486_788-485delinsAG ENSP00000420705.2:n.788-486_788-485delinsAG
ENST00000493795.5:c.3872_3873delinsAG ENSP00000418775.1:p.Lys1291=
ENST00000493919.5:c.647-486_647-485delinsAG ENSP00000418819.1:n.647-486_647-485delinsAG
ENST00000586385.5:c.5-27567_5-27566delinsAG ENSP00000465818.1:n.5-27567_5-27566delinsAG
ENST00000591534.5:c.-43-16997_-43-16996delinsAG ENSP00000467329.1:n.-43-16997_-43-16996delinsAG
ENST00000591849.5:c.-99+33753_-99+33754delinsAG ENSP00000465347.1:n.-99+33753_-99+33754delinsAG
NM_007294.3:c.4013_4014delinsAG , LRG_292t1:c.4013_4014delinsAG NP_009225.1:p.Lys1338=
NM_007297.3:c.3872_3873delinsAG NP_009228.2:p.Lys1291=
NM_007298.3:c.788-486_788-485delinsAG NP_009229.2:n.788-486_788-485delinsAG
NM_007299.3:c.788-486_788-485delinsAG NP_009230.2:n.788-486_788-485delinsAG
NM_007300.3:c.4013_4014delinsAG NP_009231.2:p.Lys1338=
NR_027676.1:n.4149_4150delinsAG
NM_007294.4:c.4013_4014delinsAG MANE Select NP_009225.1:p.Lys1338=
NM_007297.4:c.3872_3873delinsAG NP_009228.2:p.Lys1291=
NM_007299.4:c.788-486_788-485delinsAG NP_009230.2:n.788-486_788-485delinsAG
NM_007300.4:c.4013_4014delinsAG NP_009231.2:p.Lys1338=
NR_027676.2:n.4190_4191delinsAG