Canonical Allele Identifier: CA2260782249

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091762_43091764delinsCTG , CM000679.2:g.43091762_43091764delinsCTG	GRCh38
NC_000017.10:g.41243779_41243781delinsCTG , CM000679.1:g.41243779_41243781delinsCTG	GRCh37
NC_000017.9:g.38497305_38497307delinsCTG	NCBI36
NG_005905.2:g.126220_126222delinsCAG , LRG_292:g.126220_126222delinsCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3831_3833delinsCAG
ENST00000461574.2:c.3767_3769delinsCAG	ENSP00000417241.2:p.Thr1256=
ENST00000470026.6:c.3767_3769delinsCAG	ENSP00000419274.2:p.Thr1256=
ENST00000473961.6:c.3641_3643delinsCAG	ENSP00000420201.2:p.Thr1214=
ENST00000476777.6:c.3764_3766delinsCAG	ENSP00000417554.2:p.Thr1255=
ENST00000477152.6:c.3689_3691delinsCAG	ENSP00000419988.2:p.Thr1230=
ENST00000478531.6:c.785-732_785-730delinsCAG	ENSP00000420412.2:n.785-732_785-730delins...
ENST00000489037.2:c.3689_3691delinsCAG	ENSP00000420781.2:p.Thr1230=
ENST00000493919.6:c.647-732_647-730delinsCAG	ENSP00000418819.2:n.647-732_647-730delins...
ENST00000494123.6:c.3767_3769delinsCAG	ENSP00000419103.2:p.Thr1256=
ENST00000497488.2:c.2879_2881delinsCAG	ENSP00000418986.2:p.Thr960=
ENST00000618469.2:c.3767_3769delinsCAG	ENSP00000478114.2:p.Thr1256=
ENST00000634433.2:c.3644_3646delinsCAG	ENSP00000489431.2:p.Thr1215=
ENST00000644379.2:c.3767_3769delinsCAG	ENSP00000496570.2:p.Thr1256=
ENST00000644555.2:c.647-732_647-730delinsCAG	ENSP00000494614.2:n.647-732_647-730delins...
ENST00000652672.2:c.3626_3628delinsCAG	ENSP00000498906.2:p.Thr1209=
ENST00000484087.6:c.665-732_665-730delinsCAG	ENSP00000419481.2:n.665-732_665-730delins...
ENST00000700182.1:c.707-732_707-730delinsCAG	ENSP00000514849.1:n.707-732_707-730delins...
ENST00000357654.9:c.3767_3769delinsCAG MANE Select	ENSP00000350283.3:p.Thr1256=
ENST00000471181.7:c.3767_3769delinsCAG	ENSP00000418960.2:p.Thr1256=
ENST00000644379.1:c.88_90delinsCAG
ENST00000352993.7:c.671-732_671-730delinsCAG	ENSP00000312236.5:n.671-732_671-730delins...
ENST00000354071.7:c.3767_3769delinsCAG	ENSP00000326002.7:p.Thr1256=
ENST00000357654.7:c.3767_3769delinsCAG	ENSP00000350283.3:p.Thr1256=
ENST00000461221.5:c.*3550_*3552delinsCAG	ENSP00000418548.1:n.*3550_*3552delinsCAG
ENST00000461574.1:c.61_63delinsCAG
ENST00000468300.5:c.788-732_788-730delinsCAG	ENSP00000417148.1:n.788-732_788-730delins...
ENST00000471181.6:c.3767_3769delinsCAG	ENSP00000418960.2:p.Thr1256=
ENST00000478531.5:c.785-732_785-730delinsCAG	ENSP00000420412.1:n.785-732_785-730delins...
ENST00000484087.5:c.410-732_410-730delinsCAG	ENSP00000419481.1:n.410-732_410-730delins...
ENST00000487825.5:c.413-732_413-730delinsCAG	ENSP00000418212.1:n.413-732_413-730delins...
ENST00000491747.6:c.788-732_788-730delinsCAG	ENSP00000420705.2:n.788-732_788-730delins...
ENST00000493795.5:c.3626_3628delinsCAG	ENSP00000418775.1:p.Thr1209=
ENST00000493919.5:c.647-732_647-730delinsCAG	ENSP00000418819.1:n.647-732_647-730delins...
ENST00000586385.5:c.5-27813_5-27811delinsCAG	ENSP00000465818.1:n.5-27813_5-27811delins...
ENST00000591534.5:c.-43-17243_-43-17241delinsCAG	ENSP00000467329.1:n.-43-17243_-43-17241de...
ENST00000591849.5:c.-99+33507_-99+33509delinsCAG	ENSP00000465347.1:n.-99+33507_-99+33509de...
NM_007294.3:c.3767_3769delinsCAG , LRG_292t1:c.3767_3769delinsCAG	NP_009225.1:p.Thr1256=
NM_007297.3:c.3626_3628delinsCAG	NP_009228.2:p.Thr1209=
NM_007298.3:c.788-732_788-730delinsCAG	NP_009229.2:n.788-732_788-730delinsCAG
NM_007299.3:c.788-732_788-730delinsCAG	NP_009230.2:n.788-732_788-730delinsCAG
NM_007300.3:c.3767_3769delinsCAG	NP_009231.2:p.Thr1256=
NR_027676.1:n.3903_3905delinsCAG
NM_007294.4:c.3767_3769delinsCAG MANE Select	NP_009225.1:p.Thr1256=
NM_007297.4:c.3626_3628delinsCAG	NP_009228.2:p.Thr1209=
NM_007299.4:c.788-732_788-730delinsCAG	NP_009230.2:n.788-732_788-730delinsCAG
NM_007300.4:c.3767_3769delinsCAG	NP_009231.2:p.Thr1256=
NR_027676.2:n.3944_3946delinsCAG