Canonical Allele Identifier: CA2260782137
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091659_43091664delinsCATTTT , CM000679.2:g.43091659_43091664delinsCATTTT GRCh38
NC_000017.10:g.41243676_41243681delinsCATTTT , CM000679.1:g.41243676_41243681delinsCATTTT GRCh37
NC_000017.9:g.38497202_38497207delinsCATTTT NCBI36
NG_005905.2:g.126320_126325delinsAAAATG , LRG_292:g.126320_126325delinsAAAATG

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3931_3936delinsAAAATG
ENST00000461574.2:c.3867_3872delinsAAAATG ENSP00000417241.2:p.Thr1289=
ENST00000470026.6:c.3867_3872delinsAAAATG ENSP00000419274.2:p.Thr1289=
ENST00000473961.6:c.3741_3746delinsAAAATG ENSP00000420201.2:p.Thr1247=
ENST00000476777.6:c.3864_3869delinsAAAATG ENSP00000417554.2:p.Thr1288=
ENST00000477152.6:c.3789_3794delinsAAAATG ENSP00000419988.2:p.Thr1263=
ENST00000478531.6:c.785-632_785-627delinsAAAATG ENSP00000420412.2:n.785-632_785-627delins...
ENST00000489037.2:c.3789_3794delinsAAAATG ENSP00000420781.2:p.Thr1263=
ENST00000493919.6:c.647-632_647-627delinsAAAATG ENSP00000418819.2:n.647-632_647-627delins...
ENST00000494123.6:c.3867_3872delinsAAAATG ENSP00000419103.2:p.Thr1289=
ENST00000497488.2:c.2979_2984delinsAAAATG ENSP00000418986.2:p.Thr993=
ENST00000618469.2:c.3867_3872delinsAAAATG ENSP00000478114.2:p.Thr1289=
ENST00000634433.2:c.3744_3749delinsAAAATG ENSP00000489431.2:p.Thr1248=
ENST00000644379.2:c.3867_3872delinsAAAATG ENSP00000496570.2:p.Thr1289=
ENST00000644555.2:c.647-632_647-627delinsAAAATG ENSP00000494614.2:n.647-632_647-627delins...
ENST00000652672.2:c.3726_3731delinsAAAATG ENSP00000498906.2:p.Thr1242=
ENST00000484087.6:c.665-632_665-627delinsAAAATG ENSP00000419481.2:n.665-632_665-627delins...
ENST00000700182.1:c.707-632_707-627delinsAAAATG ENSP00000514849.1:n.707-632_707-627delins...
ENST00000357654.9:c.3867_3872delinsAAAATG MANE Select ENSP00000350283.3:p.Thr1289=
ENST00000471181.7:c.3867_3872delinsAAAATG ENSP00000418960.2:p.Thr1289=
ENST00000644379.1:c.188_193delinsAAAATG
ENST00000352993.7:c.671-632_671-627delinsAAAATG ENSP00000312236.5:n.671-632_671-627delins...
ENST00000354071.7:c.3867_3872delinsAAAATG ENSP00000326002.7:p.Thr1289=
ENST00000357654.7:c.3867_3872delinsAAAATG ENSP00000350283.3:p.Thr1289=
ENST00000461221.5:c.*3650_*3655delinsAAAATG ENSP00000418548.1:n.*3650_*3655delinsAAAA...
ENST00000461574.1:c.161_166delinsAAAATG
ENST00000468300.5:c.788-632_788-627delinsAAAATG ENSP00000417148.1:n.788-632_788-627delins...
ENST00000471181.6:c.3867_3872delinsAAAATG ENSP00000418960.2:p.Thr1289=
ENST00000478531.5:c.785-632_785-627delinsAAAATG ENSP00000420412.1:n.785-632_785-627delins...
ENST00000484087.5:c.410-632_410-627delinsAAAATG ENSP00000419481.1:n.410-632_410-627delins...
ENST00000487825.5:c.413-632_413-627delinsAAAATG ENSP00000418212.1:n.413-632_413-627delins...
ENST00000491747.6:c.788-632_788-627delinsAAAATG ENSP00000420705.2:n.788-632_788-627delins...
ENST00000493795.5:c.3726_3731delinsAAAATG ENSP00000418775.1:p.Thr1242=
ENST00000493919.5:c.647-632_647-627delinsAAAATG ENSP00000418819.1:n.647-632_647-627delins...
ENST00000586385.5:c.5-27713_5-27708delinsAAAATG ENSP00000465818.1:n.5-27713_5-27708delins...
ENST00000591534.5:c.-43-17143_-43-17138delinsAAAATG ENSP00000467329.1:n.-43-17143_-43-17138de...
ENST00000591849.5:c.-99+33607_-99+33612delinsAAAATG ENSP00000465347.1:n.-99+33607_-99+33612de...
NM_007294.3:c.3867_3872delinsAAAATG , LRG_292t1:c.3867_3872delinsAAAATG NP_009225.1:p.Thr1289=
NM_007297.3:c.3726_3731delinsAAAATG NP_009228.2:p.Thr1242=
NM_007298.3:c.788-632_788-627delinsAAAATG NP_009229.2:n.788-632_788-627delinsAAAATG...
NM_007299.3:c.788-632_788-627delinsAAAATG NP_009230.2:n.788-632_788-627delinsAAAATG...
NM_007300.3:c.3867_3872delinsAAAATG NP_009231.2:p.Thr1289=
NR_027676.1:n.4003_4008delinsAAAATG
NM_007294.4:c.3867_3872delinsAAAATG MANE Select NP_009225.1:p.Thr1289=
NM_007297.4:c.3726_3731delinsAAAATG NP_009228.2:p.Thr1242=
NM_007299.4:c.788-632_788-627delinsAAAATG NP_009230.2:n.788-632_788-627delinsAAAATG...
NM_007300.4:c.3867_3872delinsAAAATG NP_009231.2:p.Thr1289=
NR_027676.2:n.4044_4049delinsAAAATG