Canonical Allele Identifier: CA2260781939

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091461_43091465delinsTCTTG , CM000679.2:g.43091461_43091465delinsTCTTG	GRCh38
NC_000017.10:g.41243478_41243482delinsTCTTG , CM000679.1:g.41243478_41243482delinsTCTTG	GRCh37
NC_000017.9:g.38497004_38497008delinsTCTTG	NCBI36
NG_005905.2:g.126519_126523delinsCAAGA , LRG_292:g.126519_126523delinsCAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4130_4134delinsCAAGA
ENST00000461574.2:c.4066_4070delinsCAAGA	ENSP00000417241.2:p.Gln1356=
ENST00000470026.6:c.4066_4070delinsCAAGA	ENSP00000419274.2:p.Gln1356=
ENST00000473961.6:c.3940_3944delinsCAAGA	ENSP00000420201.2:p.Gln1314=
ENST00000476777.6:c.4063_4067delinsCAAGA	ENSP00000417554.2:p.Gln1355=
ENST00000477152.6:c.3988_3992delinsCAAGA	ENSP00000419988.2:p.Gln1330=
ENST00000478531.6:c.785-433_785-429delinsCAAGA	ENSP00000420412.2:n.785-433_785-429delinsCAAGA
ENST00000489037.2:c.3988_3992delinsCAAGA	ENSP00000420781.2:p.Gln1330=
ENST00000493919.6:c.647-433_647-429delinsCAAGA	ENSP00000418819.2:n.647-433_647-429delinsCAAGA
ENST00000494123.6:c.4066_4070delinsCAAGA	ENSP00000419103.2:p.Gln1356=
ENST00000497488.2:c.3178_3182delinsCAAGA	ENSP00000418986.2:p.Gln1060=
ENST00000618469.2:c.4066_4070delinsCAAGA	ENSP00000478114.2:p.Gln1356=
ENST00000634433.2:c.3943_3947delinsCAAGA	ENSP00000489431.2:p.Gln1315=
ENST00000644379.2:c.4066_4070delinsCAAGA	ENSP00000496570.2:p.Gln1356=
ENST00000644555.2:c.647-433_647-429delinsCAAGA	ENSP00000494614.2:n.647-433_647-429delinsCAAGA
ENST00000652672.2:c.3925_3929delinsCAAGA	ENSP00000498906.2:p.Gln1309=
ENST00000484087.6:c.665-433_665-429delinsCAAGA	ENSP00000419481.2:n.665-433_665-429delinsCAAGA
ENST00000700182.1:c.707-433_707-429delinsCAAGA	ENSP00000514849.1:n.707-433_707-429delinsCAAGA
ENST00000357654.9:c.4066_4070delinsCAAGA MANE Select	ENSP00000350283.3:p.Gln1356=
ENST00000471181.7:c.4066_4070delinsCAAGA	ENSP00000418960.2:p.Gln1356=
ENST00000644379.1:c.387_391delinsCAAGA
ENST00000352993.7:c.671-433_671-429delinsCAAGA	ENSP00000312236.5:n.671-433_671-429delinsCAAGA
ENST00000354071.7:c.4066_4070delinsCAAGA	ENSP00000326002.7:p.Gln1356=
ENST00000357654.7:c.4066_4070delinsCAAGA	ENSP00000350283.3:p.Gln1356=
ENST00000461221.5:c.*3849_*3853delinsCAAGA	ENSP00000418548.1:n.*3849_*3853delinsCAAGA
ENST00000461574.1:c.360_364delinsCAAGA
ENST00000468300.5:c.788-433_788-429delinsCAAGA	ENSP00000417148.1:n.788-433_788-429delinsCAAGA
ENST00000471181.6:c.4066_4070delinsCAAGA	ENSP00000418960.2:p.Gln1356=
ENST00000478531.5:c.785-433_785-429delinsCAAGA	ENSP00000420412.1:n.785-433_785-429delinsCAAGA
ENST00000484087.5:c.410-433_410-429delinsCAAGA	ENSP00000419481.1:n.410-433_410-429delinsCAAGA
ENST00000487825.5:c.413-433_413-429delinsCAAGA	ENSP00000418212.1:n.413-433_413-429delinsCAAGA
ENST00000491747.6:c.788-433_788-429delinsCAAGA	ENSP00000420705.2:n.788-433_788-429delinsCAAGA
ENST00000493795.5:c.3925_3929delinsCAAGA	ENSP00000418775.1:p.Gln1309=
ENST00000493919.5:c.647-433_647-429delinsCAAGA	ENSP00000418819.1:n.647-433_647-429delinsCAAGA
ENST00000586385.5:c.5-27514_5-27510delinsCAAGA	ENSP00000465818.1:n.5-27514_5-27510delinsCAAGA
ENST00000591534.5:c.-43-16944_-43-16940delinsCAAGA	ENSP00000467329.1:n.-43-16944_-43-16940delinsCAAGA
ENST00000591849.5:c.-99+33806_-99+33810delinsCAAGA	ENSP00000465347.1:n.-99+33806_-99+33810delinsCAAGA
NM_007294.3:c.4066_4070delinsCAAGA , LRG_292t1:c.4066_4070delinsCAAGA	NP_009225.1:p.Gln1356=
NM_007297.3:c.3925_3929delinsCAAGA	NP_009228.2:p.Gln1309=
NM_007298.3:c.788-433_788-429delinsCAAGA	NP_009229.2:n.788-433_788-429delinsCAAGA
NM_007299.3:c.788-433_788-429delinsCAAGA	NP_009230.2:n.788-433_788-429delinsCAAGA
NM_007300.3:c.4066_4070delinsCAAGA	NP_009231.2:p.Gln1356=
NR_027676.1:n.4202_4206delinsCAAGA
NM_007294.4:c.4066_4070delinsCAAGA MANE Select	NP_009225.1:p.Gln1356=
NM_007297.4:c.3925_3929delinsCAAGA	NP_009228.2:p.Gln1309=
NM_007299.4:c.788-433_788-429delinsCAAGA	NP_009230.2:n.788-433_788-429delinsCAAGA
NM_007300.4:c.4066_4070delinsCAAGA	NP_009231.2:p.Gln1356=
NR_027676.2:n.4243_4247delinsCAAGA