Canonical Allele Identifier: CA3273046234
Community Standard Title: NM_007294.4(BRCA1):c.190_192delinsAGA (p.Cys64Arg)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43106476_43106478delinsTCT , CM000679.2:g.43106476_43106478delinsTCT GRCh38
NC_000017.10:g.41258493_41258495delinsTCT , CM000679.1:g.41258493_41258495delinsTCT GRCh37
NC_000017.9:g.38512019_38512021delinsTCT NCBI36
NG_005905.2:g.111506_111508delinsAGA , LRG_292:g.111506_111508delinsAGA

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.190_192delinsAGA MANE Select NP_009225.1:p.Cys64Arg
ENST00000357654.9:c.190_192delinsAGA MANE Select ENSP00000350283.3:p.Cys64Arg
NM_007294.3:c.190_192delinsAGA , LRG_292t1:c.190_192delinsAGA NP_009225.1:p.Cys64Arg
NM_007297.3:c.49_51delinsAGA NP_009228.2:p.Cys17Arg
NM_007297.4:c.49_51delinsAGA NP_009228.2:p.Cys17Arg
NM_007298.3:c.190_192delinsAGA NP_009229.2:p.Cys64Arg
NM_007299.3:c.190_192delinsAGA NP_009230.2:p.Cys64Arg
NM_007299.4:c.190_192delinsAGA NP_009230.2:p.Cys64Arg
NM_007300.3:c.190_192delinsAGA NP_009231.2:p.Cys64Arg
NM_007300.4:c.190_192delinsAGA NP_009231.2:p.Cys64Arg
NR_027676.1:n.351_351+2delinsAGA
NR_027676.2:n.392_392+2delinsAGA
ENST00000352993.7:c.190_192delinsAGA ENSP00000312236.5:p.Cys64Arg
ENST00000354071.7:c.190_192delinsAGA ENSP00000326002.7:p.Cys64Arg
ENST00000354071.8:n.254_256delinsAGA
ENST00000357654.7:c.190_192delinsAGA ENSP00000350283.3:p.Cys64Arg
ENST00000461221.5:c.190_190+2delinsAGA
ENST00000461574.2:c.190_192delinsAGA ENSP00000417241.2:p.Cys64Arg
ENST00000461798.5:c.190_190+2delinsAGA
ENST00000468300.5:c.190_192delinsAGA ENSP00000417148.1:p.Cys64Arg
ENST00000470026.5:c.190_192delinsAGA ENSP00000419274.1:p.Cys64Arg
ENST00000470026.6:c.190_192delinsAGA ENSP00000419274.2:p.Cys64Arg
ENST00000471181.6:c.190_192delinsAGA ENSP00000418960.2:p.Cys64Arg
ENST00000471181.7:c.190_192delinsAGA ENSP00000418960.2:p.Cys64Arg
ENST00000473961.6:c.190_192delinsAGA ENSP00000420201.2:p.Cys64Arg
ENST00000476777.5:c.190_192delinsAGA ENSP00000417554.1:p.Cys64Arg
ENST00000476777.6:c.190_192delinsAGA ENSP00000417554.2:p.Cys64Arg
ENST00000477152.5:c.135-1522_135-1520delinsAGA ENSP00000419988.1:n.135-1522_135-1520delinsAGA
ENST00000477152.6:c.135-1522_135-1520delinsAGA ENSP00000419988.2:n.135-1522_135-1520delinsAGA
ENST00000478531.5:c.190_192delinsAGA ENSP00000420412.1:p.Cys64Arg
ENST00000478531.6:c.190_192delinsAGA ENSP00000420412.2:p.Cys64Arg
ENST00000484087.6:c.190_192delinsAGA ENSP00000419481.2:p.Cys64Arg
ENST00000489037.1:c.135-1522_135-1520delinsAGA ENSP00000420781.1:n.135-1522_135-1520delinsAGA
ENST00000489037.2:c.135-1522_135-1520delinsAGA ENSP00000420781.2:n.135-1522_135-1520delinsAGA
ENST00000491747.6:c.190_192delinsAGA ENSP00000420705.2:p.Cys64Arg
ENST00000492859.5:c.*126_*128delinsAGA ENSP00000420253.1:n.*126_*128delinsAGA
ENST00000493795.5:c.49_51delinsAGA ENSP00000418775.1:p.Cys17Arg
ENST00000493919.5:c.49_51delinsAGA ENSP00000418819.1:p.Cys17Arg
ENST00000493919.6:c.49_51delinsAGA ENSP00000418819.2:p.Cys17Arg
ENST00000494123.5:c.190_192delinsAGA ENSP00000419103.1:p.Cys64Arg
ENST00000494123.6:c.190_192delinsAGA ENSP00000419103.2:p.Cys64Arg
ENST00000497488.1:c.-218-11618_-218-11616delinsAGA ENSP00000418986.1:n.-218-11618_-218-11616delinsAGA
ENST00000497488.2:c.-218-11618_-218-11616delinsAGA ENSP00000418986.2:n.-218-11618_-218-11616delinsAGA
ENST00000586385.5:c.4+18704_4+18706delinsAGA ENSP00000465818.1:n.4+18704_4+18706delinsAGA
ENST00000591534.5:c.-44+18793_-44+18795delinsAGA ENSP00000467329.1:n.-44+18793_-44+18795delinsAGA
ENST00000591849.5:c.-99+18793_-99+18795delinsAGA ENSP00000465347.1:n.-99+18793_-99+18795delinsAGA
ENST00000618469.2:c.190_192delinsAGA ENSP00000478114.2:p.Cys64Arg
ENST00000634433.1:c.190_192delinsAGA ENSP00000489431.1:p.Cys64Arg
ENST00000634433.2:c.190_192delinsAGA ENSP00000489431.2:p.Cys64Arg
ENST00000642945.1:c.*64_*66delinsAGA ENSP00000495897.1:n.*64_*66delinsAGA
ENST00000644379.2:c.190_192delinsAGA ENSP00000496570.2:p.Cys64Arg
ENST00000644555.1:c.49_51delinsAGA ENSP00000494614.1:p.Cys17Arg
ENST00000644555.2:c.49_51delinsAGA ENSP00000494614.2:p.Cys17Arg
ENST00000652672.1:c.49_51delinsAGA ENSP00000498906.1:p.Cys17Arg
ENST00000652672.2:c.49_51delinsAGA ENSP00000498906.2:p.Cys17Arg
ENST00000700182.1:c.135-1522_135-1520delinsAGA ENSP00000514849.1:n.135-1522_135-1520delinsAGA
ENST00000700183.1:c.*126_*126+2delinsAGA
ENST00000700184.1:n.433_435delinsAGA