Canonical Allele Identifier: CA2260782711

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092197_43092198delinsCT , CM000679.2:g.43092197_43092198delinsCT	GRCh38
NC_000017.10:g.41244214_41244215delinsCT , CM000679.1:g.41244214_41244215delinsCT	GRCh37
NC_000017.9:g.38497740_38497741delinsCT	NCBI36
NG_005905.2:g.125786_125787delinsAG , LRG_292:g.125786_125787delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3397_3398delinsAG
ENST00000461574.2:c.3333_3334delinsAG	ENSP00000417241.2:p.Gln1111=
ENST00000470026.6:c.3333_3334delinsAG	ENSP00000419274.2:p.Gln1111=
ENST00000473961.6:c.3207_3208delinsAG	ENSP00000420201.2:p.Gln1069=
ENST00000476777.6:c.3330_3331delinsAG	ENSP00000417554.2:p.Gln1110=
ENST00000477152.6:c.3255_3256delinsAG	ENSP00000419988.2:p.Gln1085=
ENST00000478531.6:c.785-1166_785-1165delinsAG	ENSP00000420412.2:n.785-1166_785-1165delinsAG
ENST00000489037.2:c.3255_3256delinsAG	ENSP00000420781.2:p.Gln1085=
ENST00000493919.6:c.647-1166_647-1165delinsAG	ENSP00000418819.2:n.647-1166_647-1165delinsAG
ENST00000494123.6:c.3333_3334delinsAG	ENSP00000419103.2:p.Gln1111=
ENST00000497488.2:c.2445_2446delinsAG	ENSP00000418986.2:p.Gln815=
ENST00000618469.2:c.3333_3334delinsAG	ENSP00000478114.2:p.Gln1111=
ENST00000634433.2:c.3210_3211delinsAG	ENSP00000489431.2:p.Gln1070=
ENST00000644379.2:c.3333_3334delinsAG	ENSP00000496570.2:p.Gln1111=
ENST00000644555.2:c.647-1166_647-1165delinsAG	ENSP00000494614.2:n.647-1166_647-1165delinsAG
ENST00000652672.2:c.3192_3193delinsAG	ENSP00000498906.2:p.Gln1064=
ENST00000484087.6:c.665-1166_665-1165delinsAG	ENSP00000419481.2:n.665-1166_665-1165delinsAG
ENST00000700182.1:c.707-1166_707-1165delinsAG	ENSP00000514849.1:n.707-1166_707-1165delinsAG
ENST00000357654.9:c.3333_3334delinsAG MANE Select	ENSP00000350283.3:p.Gln1111=
ENST00000471181.7:c.3333_3334delinsAG	ENSP00000418960.2:p.Gln1111=
ENST00000352993.7:c.671-1166_671-1165delinsAG	ENSP00000312236.5:n.671-1166_671-1165delinsAG
ENST00000354071.7:c.3333_3334delinsAG	ENSP00000326002.7:p.Gln1111=
ENST00000357654.7:c.3333_3334delinsAG	ENSP00000350283.3:p.Gln1111=
ENST00000461221.5:c.*3116_*3117delinsAG	ENSP00000418548.1:n.*3116_*3117delinsAG
ENST00000468300.5:c.788-1166_788-1165delinsAG	ENSP00000417148.1:n.788-1166_788-1165delinsAG
ENST00000471181.6:c.3333_3334delinsAG	ENSP00000418960.2:p.Gln1111=
ENST00000478531.5:c.785-1166_785-1165delinsAG	ENSP00000420412.1:n.785-1166_785-1165delinsAG
ENST00000484087.5:c.410-1166_410-1165delinsAG	ENSP00000419481.1:n.410-1166_410-1165delinsAG
ENST00000487825.5:c.413-1166_413-1165delinsAG	ENSP00000418212.1:n.413-1166_413-1165delinsAG
ENST00000491747.6:c.788-1166_788-1165delinsAG	ENSP00000420705.2:n.788-1166_788-1165delinsAG
ENST00000493795.5:c.3192_3193delinsAG	ENSP00000418775.1:p.Gln1064=
ENST00000493919.5:c.647-1166_647-1165delinsAG	ENSP00000418819.1:n.647-1166_647-1165delinsAG
ENST00000586385.5:c.5-28247_5-28246delinsAG	ENSP00000465818.1:n.5-28247_5-28246delinsAG
ENST00000591534.5:c.-43-17677_-43-17676delinsAG	ENSP00000467329.1:n.-43-17677_-43-17676delinsAG
ENST00000591849.5:c.-99+33073_-99+33074delinsAG	ENSP00000465347.1:n.-99+33073_-99+33074delinsAG
NM_007294.3:c.3333_3334delinsAG , LRG_292t1:c.3333_3334delinsAG	NP_009225.1:p.Gln1111=
NM_007297.3:c.3192_3193delinsAG	NP_009228.2:p.Gln1064=
NM_007298.3:c.788-1166_788-1165delinsAG	NP_009229.2:n.788-1166_788-1165delinsAG
NM_007299.3:c.788-1166_788-1165delinsAG	NP_009230.2:n.788-1166_788-1165delinsAG
NM_007300.3:c.3333_3334delinsAG	NP_009231.2:p.Gln1111=
NR_027676.1:n.3469_3470delinsAG
NM_007294.4:c.3333_3334delinsAG MANE Select	NP_009225.1:p.Gln1111=
NM_007297.4:c.3192_3193delinsAG	NP_009228.2:p.Gln1064=
NM_007299.4:c.788-1166_788-1165delinsAG	NP_009230.2:n.788-1166_788-1165delinsAG
NM_007300.4:c.3333_3334delinsAG	NP_009231.2:p.Gln1111=
NR_027676.2:n.3510_3511delinsAG