Canonical Allele Identifier: CA2260781980

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091495_43091496delinsCT , CM000679.2:g.43091495_43091496delinsCT	GRCh38
NC_000017.10:g.41243512_41243513delinsCT , CM000679.1:g.41243512_41243513delinsCT	GRCh37
NC_000017.9:g.38497038_38497039delinsCT	NCBI36
NG_005905.2:g.126488_126489delinsAG , LRG_292:g.126488_126489delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4099_4100delinsAG
ENST00000461574.2:c.4035_4036delinsAG	ENSP00000417241.2:p.Glu1345=
ENST00000470026.6:c.4035_4036delinsAG	ENSP00000419274.2:p.Glu1345=
ENST00000473961.6:c.3909_3910delinsAG	ENSP00000420201.2:p.Glu1303=
ENST00000476777.6:c.4032_4033delinsAG	ENSP00000417554.2:p.Glu1344=
ENST00000477152.6:c.3957_3958delinsAG	ENSP00000419988.2:p.Glu1319=
ENST00000478531.6:c.785-464_785-463delinsAG	ENSP00000420412.2:n.785-464_785-463delins...
ENST00000489037.2:c.3957_3958delinsAG	ENSP00000420781.2:p.Glu1319=
ENST00000493919.6:c.647-464_647-463delinsAG	ENSP00000418819.2:n.647-464_647-463delins...
ENST00000494123.6:c.4035_4036delinsAG	ENSP00000419103.2:p.Glu1345=
ENST00000497488.2:c.3147_3148delinsAG	ENSP00000418986.2:p.Glu1049=
ENST00000618469.2:c.4035_4036delinsAG	ENSP00000478114.2:p.Glu1345=
ENST00000634433.2:c.3912_3913delinsAG	ENSP00000489431.2:p.Glu1304=
ENST00000644379.2:c.4035_4036delinsAG	ENSP00000496570.2:p.Glu1345=
ENST00000644555.2:c.647-464_647-463delinsAG	ENSP00000494614.2:n.647-464_647-463delins...
ENST00000652672.2:c.3894_3895delinsAG	ENSP00000498906.2:p.Glu1298=
ENST00000484087.6:c.665-464_665-463delinsAG	ENSP00000419481.2:n.665-464_665-463delins...
ENST00000700182.1:c.707-464_707-463delinsAG	ENSP00000514849.1:n.707-464_707-463delins...
ENST00000357654.9:c.4035_4036delinsAG MANE Select	ENSP00000350283.3:p.Glu1345=
ENST00000471181.7:c.4035_4036delinsAG	ENSP00000418960.2:p.Glu1345=
ENST00000644379.1:c.356_357delinsAG
ENST00000352993.7:c.671-464_671-463delinsAG	ENSP00000312236.5:n.671-464_671-463delins...
ENST00000354071.7:c.4035_4036delinsAG	ENSP00000326002.7:p.Glu1345=
ENST00000357654.7:c.4035_4036delinsAG	ENSP00000350283.3:p.Glu1345=
ENST00000461221.5:c.*3818_*3819delinsAG	ENSP00000418548.1:n.*3818_*3819delinsAG
ENST00000461574.1:c.329_330delinsAG
ENST00000468300.5:c.788-464_788-463delinsAG	ENSP00000417148.1:n.788-464_788-463delins...
ENST00000471181.6:c.4035_4036delinsAG	ENSP00000418960.2:p.Glu1345=
ENST00000478531.5:c.785-464_785-463delinsAG	ENSP00000420412.1:n.785-464_785-463delins...
ENST00000484087.5:c.410-464_410-463delinsAG	ENSP00000419481.1:n.410-464_410-463delins...
ENST00000487825.5:c.413-464_413-463delinsAG	ENSP00000418212.1:n.413-464_413-463delins...
ENST00000491747.6:c.788-464_788-463delinsAG	ENSP00000420705.2:n.788-464_788-463delins...
ENST00000493795.5:c.3894_3895delinsAG	ENSP00000418775.1:p.Glu1298=
ENST00000493919.5:c.647-464_647-463delinsAG	ENSP00000418819.1:n.647-464_647-463delins...
ENST00000586385.5:c.5-27545_5-27544delinsAG	ENSP00000465818.1:n.5-27545_5-27544delins...
ENST00000591534.5:c.-43-16975_-43-16974delinsAG	ENSP00000467329.1:n.-43-16975_-43-16974de...
ENST00000591849.5:c.-99+33775_-99+33776delinsAG	ENSP00000465347.1:n.-99+33775_-99+33776de...
NM_007294.3:c.4035_4036delinsAG , LRG_292t1:c.4035_4036delinsAG	NP_009225.1:p.Glu1345=
NM_007297.3:c.3894_3895delinsAG	NP_009228.2:p.Glu1298=
NM_007298.3:c.788-464_788-463delinsAG	NP_009229.2:n.788-464_788-463delinsAG
NM_007299.3:c.788-464_788-463delinsAG	NP_009230.2:n.788-464_788-463delinsAG
NM_007300.3:c.4035_4036delinsAG	NP_009231.2:p.Glu1345=
NR_027676.1:n.4171_4172delinsAG
NM_007294.4:c.4035_4036delinsAG MANE Select	NP_009225.1:p.Glu1345=
NM_007297.4:c.3894_3895delinsAG	NP_009228.2:p.Glu1298=
NM_007299.4:c.788-464_788-463delinsAG	NP_009230.2:n.788-464_788-463delinsAG
NM_007300.4:c.4035_4036delinsAG	NP_009231.2:p.Glu1345=
NR_027676.2:n.4212_4213delinsAG