Canonical Allele Identifier: CA2695225977

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091991_43091992insA , CM000679.2:g.43091991_43091992insA	GRCh38
NC_000017.10:g.41244008_41244009insA , CM000679.1:g.41244008_41244009insA	GRCh37
NC_000017.9:g.38497534_38497535insA	NCBI36
NG_005905.2:g.125992_125993insT , LRG_292:g.125992_125993insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3603_3604insT
ENST00000461574.2:c.3539_3540insT	ENSP00000417241.2:p.Val1181ArgfsTer7
ENST00000470026.6:c.3539_3540insT	ENSP00000419274.2:p.Val1181ArgfsTer7
ENST00000473961.6:c.3413_3414insT	ENSP00000420201.2:p.Val1139ArgfsTer7
ENST00000476777.6:c.3536_3537insT	ENSP00000417554.2:p.Val1180ArgfsTer7
ENST00000477152.6:c.3461_3462insT	ENSP00000419988.2:p.Val1155ArgfsTer7
ENST00000478531.6:c.785-960_785-959insT	ENSP00000420412.2:n.785-960_785-959insT
ENST00000489037.2:c.3461_3462insT	ENSP00000420781.2:p.Val1155ArgfsTer7
ENST00000493919.6:c.647-960_647-959insT	ENSP00000418819.2:n.647-960_647-959insT
ENST00000494123.6:c.3539_3540insT	ENSP00000419103.2:p.Val1181ArgfsTer7
ENST00000497488.2:c.2651_2652insT	ENSP00000418986.2:p.Val885ArgfsTer7
ENST00000618469.2:c.3539_3540insT	ENSP00000478114.2:p.Val1181ArgfsTer7
ENST00000634433.2:c.3416_3417insT	ENSP00000489431.2:p.Val1140ArgfsTer7
ENST00000644379.2:c.3539_3540insT	ENSP00000496570.2:p.Val1181ArgfsTer7
ENST00000644555.2:c.647-960_647-959insT	ENSP00000494614.2:n.647-960_647-959insT
ENST00000652672.2:c.3398_3399insT	ENSP00000498906.2:p.Val1134ArgfsTer7
ENST00000484087.6:c.665-960_665-959insT	ENSP00000419481.2:n.665-960_665-959insT
ENST00000700182.1:c.707-960_707-959insT	ENSP00000514849.1:n.707-960_707-959insT
ENST00000357654.9:c.3539_3540insT MANE Select	ENSP00000350283.3:p.Val1181ArgfsTer7
ENST00000471181.7:c.3539_3540insT	ENSP00000418960.2:p.Val1181ArgfsTer7
ENST00000352993.7:c.671-960_671-959insT	ENSP00000312236.5:n.671-960_671-959insT
ENST00000354071.7:c.3539_3540insT	ENSP00000326002.7:p.Val1181ArgfsTer7
ENST00000357654.7:c.3539_3540insT	ENSP00000350283.3:p.Val1181ArgfsTer7
ENST00000461221.5:c.*3322_*3323insT	ENSP00000418548.1:n.*3322_*3323insT
ENST00000468300.5:c.788-960_788-959insT	ENSP00000417148.1:n.788-960_788-959insT
ENST00000471181.6:c.3539_3540insT	ENSP00000418960.2:p.Val1181ArgfsTer7
ENST00000478531.5:c.785-960_785-959insT	ENSP00000420412.1:n.785-960_785-959insT
ENST00000484087.5:c.410-960_410-959insT	ENSP00000419481.1:n.410-960_410-959insT
ENST00000487825.5:c.413-960_413-959insT	ENSP00000418212.1:n.413-960_413-959insT
ENST00000491747.6:c.788-960_788-959insT	ENSP00000420705.2:n.788-960_788-959insT
ENST00000493795.5:c.3398_3399insT	ENSP00000418775.1:p.Val1134ArgfsTer7
ENST00000493919.5:c.647-960_647-959insT	ENSP00000418819.1:n.647-960_647-959insT
ENST00000586385.5:c.5-28041_5-28040insT	ENSP00000465818.1:n.5-28041_5-28040insT
ENST00000591534.5:c.-43-17471_-43-17470insT	ENSP00000467329.1:n.-43-17471_-43-17470insT
ENST00000591849.5:c.-99+33279_-99+33280insT	ENSP00000465347.1:n.-99+33279_-99+33280insT
NM_007294.3:c.3539_3540insT , LRG_292t1:c.3539_3540insT	NP_009225.1:p.Val1181ArgfsTer7
NM_007297.3:c.3398_3399insT	NP_009228.2:p.Val1134ArgfsTer7
NM_007298.3:c.788-960_788-959insT	NP_009229.2:n.788-960_788-959insT
NM_007299.3:c.788-960_788-959insT	NP_009230.2:n.788-960_788-959insT
NM_007300.3:c.3539_3540insT	NP_009231.2:p.Val1181ArgfsTer7
NR_027676.1:n.3675_3676insT
NM_007294.4:c.3539_3540insT MANE Select	NP_009225.1:p.Val1181ArgfsTer7
NM_007297.4:c.3398_3399insT	NP_009228.2:p.Val1134ArgfsTer7
NM_007299.4:c.788-960_788-959insT	NP_009230.2:n.788-960_788-959insT
NM_007300.4:c.3539_3540insT	NP_009231.2:p.Val1181ArgfsTer7
NR_027676.2:n.3716_3717insT