Canonical Allele Identifier: CA2260782063

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091576_43091577delinsCA , CM000679.2:g.43091576_43091577delinsCA	GRCh38
NC_000017.10:g.41243593_41243594delinsCA , CM000679.1:g.41243593_41243594delinsCA	GRCh37
NC_000017.9:g.38497119_38497120delinsCA	NCBI36
NG_005905.2:g.126407_126408delinsTG , LRG_292:g.126407_126408delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4018_4019delinsTG
ENST00000461574.2:c.3954_3955delinsTG	ENSP00000417241.2:p.Ile1318=
ENST00000470026.6:c.3954_3955delinsTG	ENSP00000419274.2:p.Ile1318=
ENST00000473961.6:c.3828_3829delinsTG	ENSP00000420201.2:p.Ile1276=
ENST00000476777.6:c.3951_3952delinsTG	ENSP00000417554.2:p.Ile1317=
ENST00000477152.6:c.3876_3877delinsTG	ENSP00000419988.2:p.Ile1292=
ENST00000478531.6:c.785-545_785-544delinsTG	ENSP00000420412.2:n.785-545_785-544delinsTG
ENST00000489037.2:c.3876_3877delinsTG	ENSP00000420781.2:p.Ile1292=
ENST00000493919.6:c.647-545_647-544delinsTG	ENSP00000418819.2:n.647-545_647-544delinsTG
ENST00000494123.6:c.3954_3955delinsTG	ENSP00000419103.2:p.Ile1318=
ENST00000497488.2:c.3066_3067delinsTG	ENSP00000418986.2:p.Ile1022=
ENST00000618469.2:c.3954_3955delinsTG	ENSP00000478114.2:p.Ile1318=
ENST00000634433.2:c.3831_3832delinsTG	ENSP00000489431.2:p.Ile1277=
ENST00000644379.2:c.3954_3955delinsTG	ENSP00000496570.2:p.Ile1318=
ENST00000644555.2:c.647-545_647-544delinsTG	ENSP00000494614.2:n.647-545_647-544delinsTG
ENST00000652672.2:c.3813_3814delinsTG	ENSP00000498906.2:p.Ile1271=
ENST00000484087.6:c.665-545_665-544delinsTG	ENSP00000419481.2:n.665-545_665-544delinsTG
ENST00000700182.1:c.707-545_707-544delinsTG	ENSP00000514849.1:n.707-545_707-544delinsTG
ENST00000357654.9:c.3954_3955delinsTG MANE Select	ENSP00000350283.3:p.Ile1318=
ENST00000471181.7:c.3954_3955delinsTG	ENSP00000418960.2:p.Ile1318=
ENST00000644379.1:c.275_276delinsTG
ENST00000352993.7:c.671-545_671-544delinsTG	ENSP00000312236.5:n.671-545_671-544delinsTG
ENST00000354071.7:c.3954_3955delinsTG	ENSP00000326002.7:p.Ile1318=
ENST00000357654.7:c.3954_3955delinsTG	ENSP00000350283.3:p.Ile1318=
ENST00000461221.5:c.*3737_*3738delinsTG	ENSP00000418548.1:n.*3737_*3738delinsTG
ENST00000461574.1:c.248_249delinsTG
ENST00000468300.5:c.788-545_788-544delinsTG	ENSP00000417148.1:n.788-545_788-544delinsTG
ENST00000471181.6:c.3954_3955delinsTG	ENSP00000418960.2:p.Ile1318=
ENST00000478531.5:c.785-545_785-544delinsTG	ENSP00000420412.1:n.785-545_785-544delinsTG
ENST00000484087.5:c.410-545_410-544delinsTG	ENSP00000419481.1:n.410-545_410-544delinsTG
ENST00000487825.5:c.413-545_413-544delinsTG	ENSP00000418212.1:n.413-545_413-544delinsTG
ENST00000491747.6:c.788-545_788-544delinsTG	ENSP00000420705.2:n.788-545_788-544delinsTG
ENST00000493795.5:c.3813_3814delinsTG	ENSP00000418775.1:p.Ile1271=
ENST00000493919.5:c.647-545_647-544delinsTG	ENSP00000418819.1:n.647-545_647-544delinsTG
ENST00000586385.5:c.5-27626_5-27625delinsTG	ENSP00000465818.1:n.5-27626_5-27625delinsTG
ENST00000591534.5:c.-43-17056_-43-17055delinsTG	ENSP00000467329.1:n.-43-17056_-43-17055delinsTG
ENST00000591849.5:c.-99+33694_-99+33695delinsTG	ENSP00000465347.1:n.-99+33694_-99+33695delinsTG
NM_007294.3:c.3954_3955delinsTG , LRG_292t1:c.3954_3955delinsTG	NP_009225.1:p.Ile1318=
NM_007297.3:c.3813_3814delinsTG	NP_009228.2:p.Ile1271=
NM_007298.3:c.788-545_788-544delinsTG	NP_009229.2:n.788-545_788-544delinsTG
NM_007299.3:c.788-545_788-544delinsTG	NP_009230.2:n.788-545_788-544delinsTG
NM_007300.3:c.3954_3955delinsTG	NP_009231.2:p.Ile1318=
NR_027676.1:n.4090_4091delinsTG
NM_007294.4:c.3954_3955delinsTG MANE Select	NP_009225.1:p.Ile1318=
NM_007297.4:c.3813_3814delinsTG	NP_009228.2:p.Ile1271=
NM_007299.4:c.788-545_788-544delinsTG	NP_009230.2:n.788-545_788-544delinsTG
NM_007300.4:c.3954_3955delinsTG	NP_009231.2:p.Ile1318=
NR_027676.2:n.4131_4132delinsTG