LDH info

Canonical Allele Identifier: CA658824537
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 548288
ClinVar RCV Id: RCV000661280
dbSNP Id: rs1555592487

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094424_43094425insGA , CM000679.2:g.43094424_43094425insGA GRCh38
NC_000017.10:g.41246441_41246442insGA , CM000679.1:g.41246441_41246442insGA GRCh37
NC_000017.9:g.38499967_38499968insGA NCBI36
NG_005905.2:g.123560_123561insCT , LRG_292:g.123560_123561insCT

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.1107_1108insCT , LRG_292t1:c.1107_1108insCT NP_009225.1:p.Val370LeufsTer5
NM_007297.3:c.966_967insCT VV NP_009228.2:p.Val323LeufsTer5
NM_007298.3:c.787+320_787+321insCT VV NP_009229.2:p.=
NM_007299.3:c.787+320_787+321insCT VV NP_009230.2:p.=
NM_007300.3:c.1107_1108insCT VV NP_009231.2:p.Val370LeufsTer5
NR_027676.1:n.1243_1244insCT
NM_007294.4:c.1107_1108insCT VV MANE Preferred NP_009225.1:p.Val370LeufsTer5
NM_007297.4:c.966_967insCT VV NP_009228.2:p.Val323LeufsTer5
NM_007299.4:c.787+320_787+321insCT VV NP_009230.2:p.=
NM_007300.4:c.1107_1108insCT VV NP_009231.2:p.Val370LeufsTer5
NR_027676.2:n.1284_1285insCT
ENST00000352993.7:c.670+1422_670+1423insCT ENSP00000312236.5:p.=
ENST00000354071.7:c.1107_1108insCT ENSP00000326002.7:p.Val370LeufsTer5
ENST00000357654.7:c.1107_1108insCT ENSP00000350283.3:p.Val370LeufsTer5
ENST00000412061.3:n.458_459insCT
ENST00000461221.5:c.*890_*891insCT ENSP00000418548.1:p.=
ENST00000468300.5:c.787+320_787+321insCT ENSP00000417148.1:p.=
ENST00000470026.5:c.1107_1108insCT ENSP00000419274.1:p.Val370LeufsTer5
ENST00000471181.6:c.1107_1108insCT ENSP00000418960.2:p.Val370LeufsTer5
ENST00000473961.5:n.704_705insCT
ENST00000477152.5:c.1029_1030insCT ENSP00000419988.1:p.Val344LeufsTer5
ENST00000478531.5:c.784+320_784+321insCT ENSP00000420412.1:p.=
ENST00000484087.5:n.409+320_409+321insCT ENSP00000419481.1:p.=
ENST00000487825.5:n.412+320_412+321insCT ENSP00000418212.1:p.=
ENST00000491747.6:c.787+320_787+321insCT ENSP00000420705.2:p.=
ENST00000492859.5:c.*1043_*1044insCT ENSP00000420253.1:p.=
ENST00000493795.5:c.966_967insCT ENSP00000418775.1:p.Val323LeufsTer5
ENST00000493919.5:c.646+320_646+321insCT ENSP00000418819.1:p.=
ENST00000494123.5:c.1107_1108insCT ENSP00000419103.1:p.Val370LeufsTer5
ENST00000497488.1:c.219_220insCT ENSP00000418986.1:p.Val74LeufsTer5
ENST00000586385.5:c.5-30473_5-30472insCT ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-19903_-43-19902insCT ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+30847_-99+30848insCT ENSP00000465347.1:p.=
ENST00000634433.1:c.984_985insCT ENSP00000489431.1:p.Val329LeufsTer5