Canonical Allele Identifier: CA2260782169

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091688_43091690delinsCTG , CM000679.2:g.43091688_43091690delinsCTG	GRCh38
NC_000017.10:g.41243705_41243707delinsCTG , CM000679.1:g.41243705_41243707delinsCTG	GRCh37
NC_000017.9:g.38497231_38497233delinsCTG	NCBI36
NG_005905.2:g.126294_126296delinsCAG , LRG_292:g.126294_126296delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3905_3907delinsCAG
ENST00000461574.2:c.3841_3843delinsCAG	ENSP00000417241.2:p.Gln1281=
ENST00000470026.6:c.3841_3843delinsCAG	ENSP00000419274.2:p.Gln1281=
ENST00000473961.6:c.3715_3717delinsCAG	ENSP00000420201.2:p.Gln1239=
ENST00000476777.6:c.3838_3840delinsCAG	ENSP00000417554.2:p.Gln1280=
ENST00000477152.6:c.3763_3765delinsCAG	ENSP00000419988.2:p.Gln1255=
ENST00000478531.6:c.785-658_785-656delinsCAG	ENSP00000420412.2:n.785-658_785-656delinsCAG
ENST00000489037.2:c.3763_3765delinsCAG	ENSP00000420781.2:p.Gln1255=
ENST00000493919.6:c.647-658_647-656delinsCAG	ENSP00000418819.2:n.647-658_647-656delinsCAG
ENST00000494123.6:c.3841_3843delinsCAG	ENSP00000419103.2:p.Gln1281=
ENST00000497488.2:c.2953_2955delinsCAG	ENSP00000418986.2:p.Gln985=
ENST00000618469.2:c.3841_3843delinsCAG	ENSP00000478114.2:p.Gln1281=
ENST00000634433.2:c.3718_3720delinsCAG	ENSP00000489431.2:p.Gln1240=
ENST00000644379.2:c.3841_3843delinsCAG	ENSP00000496570.2:p.Gln1281=
ENST00000644555.2:c.647-658_647-656delinsCAG	ENSP00000494614.2:n.647-658_647-656delinsCAG
ENST00000652672.2:c.3700_3702delinsCAG	ENSP00000498906.2:p.Gln1234=
ENST00000484087.6:c.665-658_665-656delinsCAG	ENSP00000419481.2:n.665-658_665-656delinsCAG
ENST00000700182.1:c.707-658_707-656delinsCAG	ENSP00000514849.1:n.707-658_707-656delinsCAG
ENST00000357654.9:c.3841_3843delinsCAG MANE Select	ENSP00000350283.3:p.Gln1281=
ENST00000471181.7:c.3841_3843delinsCAG	ENSP00000418960.2:p.Gln1281=
ENST00000644379.1:c.162_164delinsCAG
ENST00000352993.7:c.671-658_671-656delinsCAG	ENSP00000312236.5:n.671-658_671-656delinsCAG
ENST00000354071.7:c.3841_3843delinsCAG	ENSP00000326002.7:p.Gln1281=
ENST00000357654.7:c.3841_3843delinsCAG	ENSP00000350283.3:p.Gln1281=
ENST00000461221.5:c.*3624_*3626delinsCAG	ENSP00000418548.1:n.*3624_*3626delinsCAG
ENST00000461574.1:c.135_137delinsCAG
ENST00000468300.5:c.788-658_788-656delinsCAG	ENSP00000417148.1:n.788-658_788-656delinsCAG
ENST00000471181.6:c.3841_3843delinsCAG	ENSP00000418960.2:p.Gln1281=
ENST00000478531.5:c.785-658_785-656delinsCAG	ENSP00000420412.1:n.785-658_785-656delinsCAG
ENST00000484087.5:c.410-658_410-656delinsCAG	ENSP00000419481.1:n.410-658_410-656delinsCAG
ENST00000487825.5:c.413-658_413-656delinsCAG	ENSP00000418212.1:n.413-658_413-656delinsCAG
ENST00000491747.6:c.788-658_788-656delinsCAG	ENSP00000420705.2:n.788-658_788-656delinsCAG
ENST00000493795.5:c.3700_3702delinsCAG	ENSP00000418775.1:p.Gln1234=
ENST00000493919.5:c.647-658_647-656delinsCAG	ENSP00000418819.1:n.647-658_647-656delinsCAG
ENST00000586385.5:c.5-27739_5-27737delinsCAG	ENSP00000465818.1:n.5-27739_5-27737delinsCAG
ENST00000591534.5:c.-43-17169_-43-17167delinsCAG	ENSP00000467329.1:n.-43-17169_-43-17167delinsCAG
ENST00000591849.5:c.-99+33581_-99+33583delinsCAG	ENSP00000465347.1:n.-99+33581_-99+33583delinsCAG
NM_007294.3:c.3841_3843delinsCAG , LRG_292t1:c.3841_3843delinsCAG	NP_009225.1:p.Gln1281=
NM_007297.3:c.3700_3702delinsCAG	NP_009228.2:p.Gln1234=
NM_007298.3:c.788-658_788-656delinsCAG	NP_009229.2:n.788-658_788-656delinsCAG
NM_007299.3:c.788-658_788-656delinsCAG	NP_009230.2:n.788-658_788-656delinsCAG
NM_007300.3:c.3841_3843delinsCAG	NP_009231.2:p.Gln1281=
NR_027676.1:n.3977_3979delinsCAG
NM_007294.4:c.3841_3843delinsCAG MANE Select	NP_009225.1:p.Gln1281=
NM_007297.4:c.3700_3702delinsCAG	NP_009228.2:p.Gln1234=
NM_007299.4:c.788-658_788-656delinsCAG	NP_009230.2:n.788-658_788-656delinsCAG
NM_007300.4:c.3841_3843delinsCAG	NP_009231.2:p.Gln1281=
NR_027676.2:n.4018_4020delinsCAG