Canonical Allele Identifier: CA2260781978

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091494_43091495delinsTC , CM000679.2:g.43091494_43091495delinsTC	GRCh38
NC_000017.10:g.41243511_41243512delinsTC , CM000679.1:g.41243511_41243512delinsTC	GRCh37
NC_000017.9:g.38497037_38497038delinsTC	NCBI36
NG_005905.2:g.126489_126490delinsGA , LRG_292:g.126489_126490delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4100_4101delinsGA
ENST00000461574.2:c.4036_4037delinsGA	ENSP00000417241.2:p.Glu1346=
ENST00000470026.6:c.4036_4037delinsGA	ENSP00000419274.2:p.Glu1346=
ENST00000473961.6:c.3910_3911delinsGA	ENSP00000420201.2:p.Glu1304=
ENST00000476777.6:c.4033_4034delinsGA	ENSP00000417554.2:p.Glu1345=
ENST00000477152.6:c.3958_3959delinsGA	ENSP00000419988.2:p.Glu1320=
ENST00000478531.6:c.785-463_785-462delinsGA	ENSP00000420412.2:n.785-463_785-462delins...
ENST00000489037.2:c.3958_3959delinsGA	ENSP00000420781.2:p.Glu1320=
ENST00000493919.6:c.647-463_647-462delinsGA	ENSP00000418819.2:n.647-463_647-462delins...
ENST00000494123.6:c.4036_4037delinsGA	ENSP00000419103.2:p.Glu1346=
ENST00000497488.2:c.3148_3149delinsGA	ENSP00000418986.2:p.Glu1050=
ENST00000618469.2:c.4036_4037delinsGA	ENSP00000478114.2:p.Glu1346=
ENST00000634433.2:c.3913_3914delinsGA	ENSP00000489431.2:p.Glu1305=
ENST00000644379.2:c.4036_4037delinsGA	ENSP00000496570.2:p.Glu1346=
ENST00000644555.2:c.647-463_647-462delinsGA	ENSP00000494614.2:n.647-463_647-462delins...
ENST00000652672.2:c.3895_3896delinsGA	ENSP00000498906.2:p.Glu1299=
ENST00000484087.6:c.665-463_665-462delinsGA	ENSP00000419481.2:n.665-463_665-462delins...
ENST00000700182.1:c.707-463_707-462delinsGA	ENSP00000514849.1:n.707-463_707-462delins...
ENST00000357654.9:c.4036_4037delinsGA MANE Select	ENSP00000350283.3:p.Glu1346=
ENST00000471181.7:c.4036_4037delinsGA	ENSP00000418960.2:p.Glu1346=
ENST00000644379.1:c.357_358delinsGA
ENST00000352993.7:c.671-463_671-462delinsGA	ENSP00000312236.5:n.671-463_671-462delins...
ENST00000354071.7:c.4036_4037delinsGA	ENSP00000326002.7:p.Glu1346=
ENST00000357654.7:c.4036_4037delinsGA	ENSP00000350283.3:p.Glu1346=
ENST00000461221.5:c.*3819_*3820delinsGA	ENSP00000418548.1:n.*3819_*3820delinsGA
ENST00000461574.1:c.330_331delinsGA
ENST00000468300.5:c.788-463_788-462delinsGA	ENSP00000417148.1:n.788-463_788-462delins...
ENST00000471181.6:c.4036_4037delinsGA	ENSP00000418960.2:p.Glu1346=
ENST00000478531.5:c.785-463_785-462delinsGA	ENSP00000420412.1:n.785-463_785-462delins...
ENST00000484087.5:c.410-463_410-462delinsGA	ENSP00000419481.1:n.410-463_410-462delins...
ENST00000487825.5:c.413-463_413-462delinsGA	ENSP00000418212.1:n.413-463_413-462delins...
ENST00000491747.6:c.788-463_788-462delinsGA	ENSP00000420705.2:n.788-463_788-462delins...
ENST00000493795.5:c.3895_3896delinsGA	ENSP00000418775.1:p.Glu1299=
ENST00000493919.5:c.647-463_647-462delinsGA	ENSP00000418819.1:n.647-463_647-462delins...
ENST00000586385.5:c.5-27544_5-27543delinsGA	ENSP00000465818.1:n.5-27544_5-27543delins...
ENST00000591534.5:c.-43-16974_-43-16973delinsGA	ENSP00000467329.1:n.-43-16974_-43-16973de...
ENST00000591849.5:c.-99+33776_-99+33777delinsGA	ENSP00000465347.1:n.-99+33776_-99+33777de...
NM_007294.3:c.4036_4037delinsGA , LRG_292t1:c.4036_4037delinsGA	NP_009225.1:p.Glu1346=
NM_007297.3:c.3895_3896delinsGA	NP_009228.2:p.Glu1299=
NM_007298.3:c.788-463_788-462delinsGA	NP_009229.2:n.788-463_788-462delinsGA
NM_007299.3:c.788-463_788-462delinsGA	NP_009230.2:n.788-463_788-462delinsGA
NM_007300.3:c.4036_4037delinsGA	NP_009231.2:p.Glu1346=
NR_027676.1:n.4172_4173delinsGA
NM_007294.4:c.4036_4037delinsGA MANE Select	NP_009225.1:p.Glu1346=
NM_007297.4:c.3895_3896delinsGA	NP_009228.2:p.Glu1299=
NM_007299.4:c.788-463_788-462delinsGA	NP_009230.2:n.788-463_788-462delinsGA
NM_007300.4:c.4036_4037delinsGA	NP_009231.2:p.Glu1346=
NR_027676.2:n.4213_4214delinsGA