Canonical Allele Identifier: CA2260782047

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091563_43091564delinsTG , CM000679.2:g.43091563_43091564delinsTG	GRCh38
NC_000017.10:g.41243580_41243581delinsTG , CM000679.1:g.41243580_41243581delinsTG	GRCh37
NC_000017.9:g.38497106_38497107delinsTG	NCBI36
NG_005905.2:g.126420_126421delinsCA , LRG_292:g.126420_126421delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4031_4032delinsCA
ENST00000461574.2:c.3967_3968delinsCA	ENSP00000417241.2:p.Gln1323=
ENST00000470026.6:c.3967_3968delinsCA	ENSP00000419274.2:p.Gln1323=
ENST00000473961.6:c.3841_3842delinsCA	ENSP00000420201.2:p.Gln1281=
ENST00000476777.6:c.3964_3965delinsCA	ENSP00000417554.2:p.Gln1322=
ENST00000477152.6:c.3889_3890delinsCA	ENSP00000419988.2:p.Gln1297=
ENST00000478531.6:c.785-532_785-531delinsCA	ENSP00000420412.2:n.785-532_785-531delinsCA
ENST00000489037.2:c.3889_3890delinsCA	ENSP00000420781.2:p.Gln1297=
ENST00000493919.6:c.647-532_647-531delinsCA	ENSP00000418819.2:n.647-532_647-531delinsCA
ENST00000494123.6:c.3967_3968delinsCA	ENSP00000419103.2:p.Gln1323=
ENST00000497488.2:c.3079_3080delinsCA	ENSP00000418986.2:p.Gln1027=
ENST00000618469.2:c.3967_3968delinsCA	ENSP00000478114.2:p.Gln1323=
ENST00000634433.2:c.3844_3845delinsCA	ENSP00000489431.2:p.Gln1282=
ENST00000644379.2:c.3967_3968delinsCA	ENSP00000496570.2:p.Gln1323=
ENST00000644555.2:c.647-532_647-531delinsCA	ENSP00000494614.2:n.647-532_647-531delinsCA
ENST00000652672.2:c.3826_3827delinsCA	ENSP00000498906.2:p.Gln1276=
ENST00000484087.6:c.665-532_665-531delinsCA	ENSP00000419481.2:n.665-532_665-531delinsCA
ENST00000700182.1:c.707-532_707-531delinsCA	ENSP00000514849.1:n.707-532_707-531delinsCA
ENST00000357654.9:c.3967_3968delinsCA MANE Select	ENSP00000350283.3:p.Gln1323=
ENST00000471181.7:c.3967_3968delinsCA	ENSP00000418960.2:p.Gln1323=
ENST00000644379.1:c.288_289delinsCA
ENST00000352993.7:c.671-532_671-531delinsCA	ENSP00000312236.5:n.671-532_671-531delinsCA
ENST00000354071.7:c.3967_3968delinsCA	ENSP00000326002.7:p.Gln1323=
ENST00000357654.7:c.3967_3968delinsCA	ENSP00000350283.3:p.Gln1323=
ENST00000461221.5:c.*3750_*3751delinsCA	ENSP00000418548.1:n.*3750_*3751delinsCA
ENST00000461574.1:c.261_262delinsCA
ENST00000468300.5:c.788-532_788-531delinsCA	ENSP00000417148.1:n.788-532_788-531delinsCA
ENST00000471181.6:c.3967_3968delinsCA	ENSP00000418960.2:p.Gln1323=
ENST00000478531.5:c.785-532_785-531delinsCA	ENSP00000420412.1:n.785-532_785-531delinsCA
ENST00000484087.5:c.410-532_410-531delinsCA	ENSP00000419481.1:n.410-532_410-531delinsCA
ENST00000487825.5:c.413-532_413-531delinsCA	ENSP00000418212.1:n.413-532_413-531delinsCA
ENST00000491747.6:c.788-532_788-531delinsCA	ENSP00000420705.2:n.788-532_788-531delinsCA
ENST00000493795.5:c.3826_3827delinsCA	ENSP00000418775.1:p.Gln1276=
ENST00000493919.5:c.647-532_647-531delinsCA	ENSP00000418819.1:n.647-532_647-531delinsCA
ENST00000586385.5:c.5-27613_5-27612delinsCA	ENSP00000465818.1:n.5-27613_5-27612delinsCA
ENST00000591534.5:c.-43-17043_-43-17042delinsCA	ENSP00000467329.1:n.-43-17043_-43-17042delinsCA
ENST00000591849.5:c.-99+33707_-99+33708delinsCA	ENSP00000465347.1:n.-99+33707_-99+33708delinsCA
NM_007294.3:c.3967_3968delinsCA , LRG_292t1:c.3967_3968delinsCA	NP_009225.1:p.Gln1323=
NM_007297.3:c.3826_3827delinsCA	NP_009228.2:p.Gln1276=
NM_007298.3:c.788-532_788-531delinsCA	NP_009229.2:n.788-532_788-531delinsCA
NM_007299.3:c.788-532_788-531delinsCA	NP_009230.2:n.788-532_788-531delinsCA
NM_007300.3:c.3967_3968delinsCA	NP_009231.2:p.Gln1323=
NR_027676.1:n.4103_4104delinsCA
NM_007294.4:c.3967_3968delinsCA MANE Select	NP_009225.1:p.Gln1323=
NM_007297.4:c.3826_3827delinsCA	NP_009228.2:p.Gln1276=
NM_007299.4:c.788-532_788-531delinsCA	NP_009230.2:n.788-532_788-531delinsCA
NM_007300.4:c.3967_3968delinsCA	NP_009231.2:p.Gln1323=
NR_027676.2:n.4144_4145delinsCA