Canonical Allele Identifier: CA2260782221

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091743_43091746delinsAATG , CM000679.2:g.43091743_43091746delinsAATG	GRCh38
NC_000017.10:g.41243760_41243763delinsAATG , CM000679.1:g.41243760_41243763delinsAATG	GRCh37
NC_000017.9:g.38497286_38497289delinsAATG	NCBI36
NG_005905.2:g.126238_126241delinsCATT , LRG_292:g.126238_126241delinsCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3849_3852delinsCATT
ENST00000461574.2:c.3785_3788delinsCATT	ENSP00000417241.2:p.Ser1262=
ENST00000470026.6:c.3785_3788delinsCATT	ENSP00000419274.2:p.Ser1262=
ENST00000473961.6:c.3659_3662delinsCATT	ENSP00000420201.2:p.Ser1220=
ENST00000476777.6:c.3782_3785delinsCATT	ENSP00000417554.2:p.Ser1261=
ENST00000477152.6:c.3707_3710delinsCATT	ENSP00000419988.2:p.Ser1236=
ENST00000478531.6:c.785-714_785-711delinsCATT	ENSP00000420412.2:n.785-714_785-711delinsCATT
ENST00000489037.2:c.3707_3710delinsCATT	ENSP00000420781.2:p.Ser1236=
ENST00000493919.6:c.647-714_647-711delinsCATT	ENSP00000418819.2:n.647-714_647-711delinsCATT
ENST00000494123.6:c.3785_3788delinsCATT	ENSP00000419103.2:p.Ser1262=
ENST00000497488.2:c.2897_2900delinsCATT	ENSP00000418986.2:p.Ser966=
ENST00000618469.2:c.3785_3788delinsCATT	ENSP00000478114.2:p.Ser1262=
ENST00000634433.2:c.3662_3665delinsCATT	ENSP00000489431.2:p.Ser1221=
ENST00000644379.2:c.3785_3788delinsCATT	ENSP00000496570.2:p.Ser1262=
ENST00000644555.2:c.647-714_647-711delinsCATT	ENSP00000494614.2:n.647-714_647-711delinsCATT
ENST00000652672.2:c.3644_3647delinsCATT	ENSP00000498906.2:p.Ser1215=
ENST00000484087.6:c.665-714_665-711delinsCATT	ENSP00000419481.2:n.665-714_665-711delinsCATT
ENST00000700182.1:c.707-714_707-711delinsCATT	ENSP00000514849.1:n.707-714_707-711delinsCATT
ENST00000357654.9:c.3785_3788delinsCATT MANE Select	ENSP00000350283.3:p.Ser1262=
ENST00000471181.7:c.3785_3788delinsCATT	ENSP00000418960.2:p.Ser1262=
ENST00000644379.1:c.106_109delinsCATT
ENST00000352993.7:c.671-714_671-711delinsCATT	ENSP00000312236.5:n.671-714_671-711delinsCATT
ENST00000354071.7:c.3785_3788delinsCATT	ENSP00000326002.7:p.Ser1262=
ENST00000357654.7:c.3785_3788delinsCATT	ENSP00000350283.3:p.Ser1262=
ENST00000461221.5:c.*3568_*3571delinsCATT	ENSP00000418548.1:n.*3568_*3571delinsCATT
ENST00000461574.1:c.79_82delinsCATT
ENST00000468300.5:c.788-714_788-711delinsCATT	ENSP00000417148.1:n.788-714_788-711delinsCATT
ENST00000471181.6:c.3785_3788delinsCATT	ENSP00000418960.2:p.Ser1262=
ENST00000478531.5:c.785-714_785-711delinsCATT	ENSP00000420412.1:n.785-714_785-711delinsCATT
ENST00000484087.5:c.410-714_410-711delinsCATT	ENSP00000419481.1:n.410-714_410-711delinsCATT
ENST00000487825.5:c.413-714_413-711delinsCATT	ENSP00000418212.1:n.413-714_413-711delinsCATT
ENST00000491747.6:c.788-714_788-711delinsCATT	ENSP00000420705.2:n.788-714_788-711delinsCATT
ENST00000493795.5:c.3644_3647delinsCATT	ENSP00000418775.1:p.Ser1215=
ENST00000493919.5:c.647-714_647-711delinsCATT	ENSP00000418819.1:n.647-714_647-711delinsCATT
ENST00000586385.5:c.5-27795_5-27792delinsCATT	ENSP00000465818.1:n.5-27795_5-27792delinsCATT
ENST00000591534.5:c.-43-17225_-43-17222delinsCATT	ENSP00000467329.1:n.-43-17225_-43-17222delinsCATT
ENST00000591849.5:c.-99+33525_-99+33528delinsCATT	ENSP00000465347.1:n.-99+33525_-99+33528delinsCATT
NM_007294.3:c.3785_3788delinsCATT , LRG_292t1:c.3785_3788delinsCATT	NP_009225.1:p.Ser1262=
NM_007297.3:c.3644_3647delinsCATT	NP_009228.2:p.Ser1215=
NM_007298.3:c.788-714_788-711delinsCATT	NP_009229.2:n.788-714_788-711delinsCATT
NM_007299.3:c.788-714_788-711delinsCATT	NP_009230.2:n.788-714_788-711delinsCATT
NM_007300.3:c.3785_3788delinsCATT	NP_009231.2:p.Ser1262=
NR_027676.1:n.3921_3924delinsCATT
NM_007294.4:c.3785_3788delinsCATT MANE Select	NP_009225.1:p.Ser1262=
NM_007297.4:c.3644_3647delinsCATT	NP_009228.2:p.Ser1215=
NM_007299.4:c.788-714_788-711delinsCATT	NP_009230.2:n.788-714_788-711delinsCATT
NM_007300.4:c.3785_3788delinsCATT	NP_009231.2:p.Ser1262=
NR_027676.2:n.3962_3965delinsCATT