Canonical Allele Identifier: CA16620442
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419578
dbSNP Id: rs1064793967

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094635_43094640delinsGA , CM000679.2:g.43094635_43094640delinsGA GRCh38
NC_000017.10:g.41246652_41246657delinsGA , CM000679.1:g.41246652_41246657delinsGA GRCh37
NC_000017.9:g.38500178_38500183delinsGA NCBI36
NG_005905.2:g.123344_123349delinsTC , LRG_292:g.123344_123349delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.955_960delinsTC
ENST00000461574.2:c.891_896delinsTC ENSP00000417241.2:p.Met297IlefsTer16
ENST00000470026.6:c.891_896delinsTC ENSP00000419274.2:p.Met297IlefsTer16
ENST00000473961.6:c.765_770delinsTC ENSP00000420201.2:p.Met255IlefsTer16
ENST00000476777.6:c.888_893delinsTC ENSP00000417554.2:p.Met296IlefsTer16
ENST00000477152.6:c.813_818delinsTC ENSP00000419988.2:p.Met271IlefsTer16
ENST00000478531.6:c.784+104_784+109delinsTC ENSP00000420412.2:n.784+104_784+109delins...
ENST00000489037.2:c.813_818delinsTC ENSP00000420781.2:p.Met271IlefsTer16
ENST00000493919.6:c.646+104_646+109delinsTC ENSP00000418819.2:n.646+104_646+109delins...
ENST00000494123.6:c.891_896delinsTC ENSP00000419103.2:p.Met297IlefsTer16
ENST00000497488.2:c.3_8delinsTC ENSP00000418986.2:p.Met1IlefsTer16
ENST00000618469.2:c.891_896delinsTC ENSP00000478114.2:p.Met297IlefsTer16
ENST00000634433.2:c.768_773delinsTC ENSP00000489431.2:p.Met256IlefsTer16
ENST00000644379.2:c.891_896delinsTC ENSP00000496570.2:p.Met297IlefsTer16
ENST00000644555.2:c.646+104_646+109delinsTC ENSP00000494614.2:n.646+104_646+109delins...
ENST00000652672.2:c.750_755delinsTC ENSP00000498906.2:p.Met250IlefsTer16
ENST00000484087.6:c.664+104_664+109delinsTC ENSP00000419481.2:n.664+104_664+109delins...
ENST00000700182.1:c.706+104_706+109delinsTC ENSP00000514849.1:n.706+104_706+109delins...
ENST00000700183.1:c.*899_*904delinsTC ENSP00000514850.1:n.*899_*904delinsTC
ENST00000357654.9:c.891_896delinsTC MANE Select ENSP00000350283.3:p.Met297IlefsTer16
ENST00000471181.7:c.891_896delinsTC ENSP00000418960.2:p.Met297IlefsTer16
ENST00000642945.1:c.*765_*770delinsTC ENSP00000495897.1:n.*765_*770delinsTC
ENST00000652672.1:c.750_755delinsTC ENSP00000498906.1:p.Met250IlefsTer16
ENST00000352993.7:c.670+1206_670+1211delinsTC ENSP00000312236.5:n.670+1206_670+1211deli...
ENST00000354071.7:c.891_896delinsTC ENSP00000326002.7:p.Met297IlefsTer16
ENST00000357654.7:c.891_896delinsTC ENSP00000350283.3:p.Met297IlefsTer16
ENST00000412061.3:c.242_247delinsTC
ENST00000461221.5:c.*674_*679delinsTC ENSP00000418548.1:n.*674_*679delinsTC
ENST00000468300.5:c.787+104_787+109delinsTC ENSP00000417148.1:n.787+104_787+109delins...
ENST00000470026.5:c.891_896delinsTC ENSP00000419274.1:p.Met297IlefsTer16
ENST00000471181.6:c.891_896delinsTC ENSP00000418960.2:p.Met297IlefsTer16
ENST00000473961.5:c.488_493delinsTC
ENST00000477152.5:c.813_818delinsTC ENSP00000419988.1:p.Met271IlefsTer16
ENST00000478531.5:c.784+104_784+109delinsTC ENSP00000420412.1:n.784+104_784+109delins...
ENST00000484087.5:c.409+104_409+109delinsTC ENSP00000419481.1:n.409+104_409+109delins...
ENST00000487825.5:c.412+104_412+109delinsTC ENSP00000418212.1:n.412+104_412+109delins...
ENST00000491747.6:c.787+104_787+109delinsTC ENSP00000420705.2:n.787+104_787+109delins...
ENST00000492859.5:c.*827_*832delinsTC ENSP00000420253.1:n.*827_*832delinsTC
ENST00000493795.5:c.750_755delinsTC ENSP00000418775.1:p.Met250IlefsTer16
ENST00000493919.5:c.646+104_646+109delinsTC ENSP00000418819.1:n.646+104_646+109delins...
ENST00000494123.5:c.891_896delinsTC ENSP00000419103.1:p.Met297IlefsTer16
ENST00000497488.1:c.3_8delinsTC ENSP00000418986.1:p.Met1IlefsTer16
ENST00000586385.5:c.4+30542_4+30547delinsTC ENSP00000465818.1:n.4+30542_4+30547delins...
ENST00000591534.5:c.-43-20119_-43-20114delinsTC ENSP00000467329.1:n.-43-20119_-43-20114de...
ENST00000591849.5:c.-99+30631_-99+30636delinsTC ENSP00000465347.1:n.-99+30631_-99+30636de...
ENST00000634433.1:c.768_773delinsTC ENSP00000489431.1:p.Met256IlefsTer16
NM_007294.3:c.891_896delinsTC , LRG_292t1:c.891_896delinsTC NP_009225.1:p.Met297IlefsTer16
NM_007297.3:c.750_755delinsTC NP_009228.2:p.Met250IlefsTer16
NM_007298.3:c.787+104_787+109delinsTC NP_009229.2:n.787+104_787+109delinsTC
NM_007299.3:c.787+104_787+109delinsTC NP_009230.2:n.787+104_787+109delinsTC
NM_007300.3:c.891_896delinsTC NP_009231.2:p.Met297IlefsTer16
NR_027676.1:n.1027_1032delinsTC
NM_007294.4:c.891_896delinsTC MANE Select NP_009225.1:p.Met297IlefsTer16
NM_007297.4:c.750_755delinsTC NP_009228.2:p.Met250IlefsTer16
NM_007299.4:c.787+104_787+109delinsTC NP_009230.2:n.787+104_787+109delinsTC
NM_007300.4:c.891_896delinsTC NP_009231.2:p.Met297IlefsTer16
NR_027676.2:n.1068_1073delinsTC