Canonical Allele Identifier: CA2580094107
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1781609
ClinVar RCV Id: RCV002415026

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093631_43093664del , CM000679.2:g.43093631_43093664del GRCh38
NC_000017.10:g.41245648_41245681del , CM000679.1:g.41245648_41245681del GRCh37
NC_000017.9:g.38499174_38499207del NCBI36
NG_005905.2:g.124322_124355del , LRG_292:g.124322_124355del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1933_1966del
ENST00000461574.2:c.1869_1902del ENSP00000417241.2:p.Glu624IlefsTer16
ENST00000470026.6:c.1869_1902del ENSP00000419274.2:p.Glu624IlefsTer16
ENST00000473961.6:c.1743_1776del ENSP00000420201.2:p.Glu582IlefsTer16
ENST00000476777.6:c.1866_1899del ENSP00000417554.2:p.Glu623IlefsTer16
ENST00000477152.6:c.1791_1824del ENSP00000419988.2:p.Glu598IlefsTer16
ENST00000478531.6:c.784+1082_784+1115del ENSP00000420412.2:n.784+1082_784+1115del
ENST00000489037.2:c.1791_1824del ENSP00000420781.2:p.Glu598IlefsTer16
ENST00000493919.6:c.646+1082_646+1115del ENSP00000418819.2:n.646+1082_646+1115del
ENST00000494123.6:c.1869_1902del ENSP00000419103.2:p.Glu624IlefsTer16
ENST00000497488.2:c.981_1014del ENSP00000418986.2:p.Glu328IlefsTer16
ENST00000618469.2:c.1869_1902del ENSP00000478114.2:p.Glu624IlefsTer16
ENST00000634433.2:c.1746_1779del ENSP00000489431.2:p.Glu583IlefsTer16
ENST00000644379.2:c.1869_1902del ENSP00000496570.2:p.Glu624IlefsTer16
ENST00000644555.2:c.646+1082_646+1115del ENSP00000494614.2:n.646+1082_646+1115del
ENST00000652672.2:c.1728_1761del ENSP00000498906.2:p.Glu577IlefsTer16
ENST00000484087.6:c.664+1082_664+1115del ENSP00000419481.2:n.664+1082_664+1115del
ENST00000700182.1:c.706+1082_706+1115del ENSP00000514849.1:n.706+1082_706+1115del
ENST00000357654.9:c.1869_1902del MANE Select ENSP00000350283.3:p.Glu624IlefsTer16
ENST00000471181.7:c.1869_1902del ENSP00000418960.2:p.Glu624IlefsTer16
ENST00000652672.1:c.1728_1761del ENSP00000498906.1:p.Glu577IlefsTer?
ENST00000352993.7:c.670+2184_670+2217del ENSP00000312236.5:n.670+2184_670+2217del
ENST00000354071.7:c.1869_1902del ENSP00000326002.7:p.Glu624IlefsTer16
ENST00000357654.7:c.1869_1902del ENSP00000350283.3:p.Glu624IlefsTer16
ENST00000412061.3:c.1220_1253del
ENST00000461221.5:c.*1652_*1685del ENSP00000418548.1:n.*1652_*1685del
ENST00000468300.5:c.787+1082_787+1115del ENSP00000417148.1:n.787+1082_787+1115del
ENST00000470026.5:c.1869_1902del ENSP00000419274.1:p.Glu624IlefsTer?
ENST00000471181.6:c.1869_1902del ENSP00000418960.2:p.Glu624IlefsTer16
ENST00000477152.5:c.1791_1824del ENSP00000419988.1:p.Glu598IlefsTer?
ENST00000478531.5:c.784+1082_784+1115del ENSP00000420412.1:n.784+1082_784+1115del
ENST00000484087.5:c.409+1082_409+1115del ENSP00000419481.1:n.409+1082_409+1115del
ENST00000487825.5:c.412+1082_412+1115del ENSP00000418212.1:n.412+1082_412+1115del
ENST00000491747.6:c.787+1082_787+1115del ENSP00000420705.2:n.787+1082_787+1115del
ENST00000493795.5:c.1728_1761del ENSP00000418775.1:p.Glu577IlefsTer16
ENST00000493919.5:c.646+1082_646+1115del ENSP00000418819.1:n.646+1082_646+1115del
ENST00000586385.5:c.5-29711_5-29678del ENSP00000465818.1:n.5-29711_5-29678del
ENST00000591534.5:c.-43-19141_-43-19108del ENSP00000467329.1:n.-43-19141_-43-19108de...
ENST00000591849.5:c.-99+31609_-99+31642del ENSP00000465347.1:n.-99+31609_-99+31642de...
ENST00000634433.1:c.1746_1779del ENSP00000489431.1:p.Glu583IlefsTer16
NM_007294.3:c.1869_1902del , LRG_292t1:c.1869_1902del NP_009225.1:p.Glu624IlefsTer16
NM_007297.3:c.1728_1761del NP_009228.2:p.Glu577IlefsTer16
NM_007298.3:c.787+1082_787+1115del NP_009229.2:n.787+1082_787+1115del
NM_007299.3:c.787+1082_787+1115del NP_009230.2:n.787+1082_787+1115del
NM_007300.3:c.1869_1902del NP_009231.2:p.Glu624IlefsTer16
NR_027676.1:n.2005_2038del
NM_007294.4:c.1869_1902del MANE Select NP_009225.1:p.Glu624IlefsTer16
NM_007297.4:c.1728_1761del NP_009228.2:p.Glu577IlefsTer16
NM_007299.4:c.787+1082_787+1115del NP_009230.2:n.787+1082_787+1115del
NM_007300.4:c.1869_1902del NP_009231.2:p.Glu624IlefsTer16
NR_027676.2:n.2046_2079del