Canonical Allele Identifier: CA2260775496

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076553_43076572delinsAGAAAGGCCTTCTGGATTCT , CM000679.2:g.43076553_43076572delinsAGAAAGGCCTTCTGGATTCT	GRCh38
NC_000017.10:g.41228570_41228589delinsAGAAAGGCCTTCTGGATTCT , CM000679.1:g.41228570_41228589delinsAGAAAGGCCTTCTGGATTCT	GRCh37
NC_000017.9:g.38482096_38482115delinsAGAAAGGCCTTCTGGATTCT	NCBI36
NG_005905.2:g.141412_141431delinsAGAATCCAGAAGGCCTTTCT , LRG_292:g.141412_141431delinsAGAATCCAGAAGGCCTTTCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4397_4416delinsAGAATCCAGAAGGCCTTTCT	ENSP00000417241.2:p.Gln1466=
ENST00000470026.6:c.4400_4419delinsAGAATCCAGAAGGCCTTTCT	ENSP00000419274.2:p.Gln1467=
ENST00000473961.6:c.4274_4293delinsAGAATCCAGAAGGCCTTTCT	ENSP00000420201.2:p.Gln1425=
ENST00000476777.6:c.4394_4413delinsAGAATCCAGAAGGCCTTTCT	ENSP00000417554.2:p.Gln1465=
ENST00000477152.6:c.4322_4341delinsAGAATCCAGAAGGCCTTTCT	ENSP00000419988.2:p.Gln1441=
ENST00000478531.6:c.1088_1107delinsAGAATCCAGAAGGCCTTTCT	ENSP00000420412.2:p.Gln363=
ENST00000489037.2:c.4322_4341delinsAGAATCCAGAAGGCCTTTCT	ENSP00000420781.2:p.Gln1441=
ENST00000493919.6:c.950_969delinsAGAATCCAGAAGGCCTTTCT	ENSP00000418819.2:p.Gln317=
ENST00000494123.6:c.4400_4419delinsAGAATCCAGAAGGCCTTTCT	ENSP00000419103.2:p.Gln1467=
ENST00000497488.2:c.3512_3531delinsAGAATCCAGAAGGCCTTTCT	ENSP00000418986.2:p.Gln1171=
ENST00000618469.2:c.4400_4419delinsAGAATCCAGAAGGCCTTTCT	ENSP00000478114.2:p.Gln1467=
ENST00000634433.2:c.4277_4296delinsAGAATCCAGAAGGCCTTTCT	ENSP00000489431.2:p.Gln1426=
ENST00000644379.2:c.4466_4485delinsAGAATCCAGAAGGCCTTTCT	ENSP00000496570.2:p.Gln1489=
ENST00000644555.2:c.950_969delinsAGAATCCAGAAGGCCTTTCT	ENSP00000494614.2:p.Gln317=
ENST00000652672.2:c.4259_4278delinsAGAATCCAGAAGGCCTTTCT	ENSP00000498906.2:p.Gln1420=
ENST00000484087.6:c.962_981delinsAGAATCCAGAAGGCCTTTCT	ENSP00000419481.2:p.Gln321=
ENST00000700182.1:c.1007_1026delinsAGAATCCAGAAGGCCTTTCT	ENSP00000514849.1:p.Gln336=
ENST00000357654.9:c.4400_4419delinsAGAATCCAGAAGGCCTTTCT MANE Select	ENSP00000350283.3:p.Gln1467=
ENST00000471181.7:c.4463_4482delinsAGAATCCAGAAGGCCTTTCT	ENSP00000418960.2:p.Gln1488=
ENST00000644379.1:c.787_806delinsAGAATCCAGAAGGCCTTTCT
ENST00000352993.7:c.974_993delinsAGAATCCAGAAGGCCTTTCT	ENSP00000312236.5:p.Gln325=
ENST00000357654.7:c.4400_4419delinsAGAATCCAGAAGGCCTTTCT	ENSP00000350283.3:p.Gln1467=
ENST00000461221.5:c.*4183_*4202delinsAGAATCCAGAAGGCCTTTCT	ENSP00000418548.1:n.*4183_*4202delinsAGAA...
ENST00000461574.1:c.691_710delinsAGAATCCAGAAGGCCTTTCT
ENST00000468300.5:c.1088_1107delinsAGAATCCAGAAGGCCTTTCT	ENSP00000417148.1:p.Gln363=
ENST00000471181.6:c.4463_4482delinsAGAATCCAGAAGGCCTTTCT	ENSP00000418960.2:p.Gln1488=
ENST00000478531.5:c.1088_1107delinsAGAATCCAGAAGGCCTTTCT	ENSP00000420412.1:p.Gln363=
ENST00000484087.5:c.713_732delinsAGAATCCAGAAGGCCTTTCT	ENSP00000419481.1:p.Gln238=
ENST00000487825.5:c.716_735delinsAGAATCCAGAAGGCCTTTCT	ENSP00000418212.1:p.Gln239=
ENST00000491747.6:c.1088_1107delinsAGAATCCAGAAGGCCTTTCT	ENSP00000420705.2:p.Gln363=
ENST00000493795.5:c.4259_4278delinsAGAATCCAGAAGGCCTTTCT	ENSP00000418775.1:p.Gln1420=
ENST00000493919.5:c.950_969delinsAGAATCCAGAAGGCCTTTCT	ENSP00000418819.1:p.Gln317=
ENST00000586385.5:c.5-12621_5-12602delinsAGAATCCAGAAGGCCTTTCT	ENSP00000465818.1:n.5-12621_5-12602delins...
ENST00000591534.5:c.-43-2051_-43-2032delinsAGAATCCAGAAGGCCTTTCT	ENSP00000467329.1:n.-43-2051_-43-2032deli...
ENST00000591849.5:c.-98-26382_-98-26363delinsAGAATCCAGAAGGCCTTTCT	ENSP00000465347.1:n.-98-26382_-98-26363de...
ENST00000621897.1:n.291_310delinsAGAATCCAGAAGGCCTTTCT
NM_007294.3:c.4400_4419delinsAGAATCCAGAAGGCCTTTCT , LRG_292t1:c.4400_4419delinsAGAATCCAGAAGGCCTTTCT	NP_009225.1:p.Gln1467=
NM_007297.3:c.4259_4278delinsAGAATCCAGAAGGCCTTTCT	NP_009228.2:p.Gln1420=
NM_007298.3:c.1088_1107delinsAGAATCCAGAAGGCCTTTCT	NP_009229.2:p.Gln363=
NM_007299.3:c.1088_1107delinsAGAATCCAGAAGGCCTTTCT	NP_009230.2:p.Gln363=
NM_007300.3:c.4463_4482delinsAGAATCCAGAAGGCCTTTCT	NP_009231.2:p.Gln1488=
NR_027676.1:n.4536_4555delinsAGAATCCAGAAGGCCTTTCT
NM_007294.4:c.4400_4419delinsAGAATCCAGAAGGCCTTTCT MANE Select	NP_009225.1:p.Gln1467=
NM_007297.4:c.4259_4278delinsAGAATCCAGAAGGCCTTTCT	NP_009228.2:p.Gln1420=
NM_007299.4:c.1088_1107delinsAGAATCCAGAAGGCCTTTCT	NP_009230.2:p.Gln363=
NM_007300.4:c.4463_4482delinsAGAATCCAGAAGGCCTTTCT	NP_009231.2:p.Gln1488=
NR_027676.2:n.4577_4596delinsAGAATCCAGAAGGCCTTTCT