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.43094423_43094424insAG , CM000679.2:g.43094423_43094424insAG GRCh38
NC_000017.10:g.41246440_41246441insAG , CM000679.1:g.41246440_41246441insAG GRCh37
NC_000017.9:g.38499966_38499967insAG NCBI36
NG_005905.2:g.123559_123560insTC , LRG_292:g.123559_123560insTC

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.1106_1107insTC , LRG_292t1:c.1106_1107insTC NP_009225.1:p.Val370LeufsTer5
NM_007297.3:c.965_966insTC VV NP_009228.2:p.Val323LeufsTer5
NM_007298.3:c.787+319_787+320insTC VV NP_009229.2:p.=
NM_007299.3:c.787+319_787+320insTC VV NP_009230.2:p.=
NM_007300.3:c.1106_1107insTC VV NP_009231.2:p.Val370LeufsTer5
NR_027676.1:n.1242_1243insTC
NM_007294.4:c.1106_1107insTC VV MANE Preferred NP_009225.1:p.Val370LeufsTer5
NM_007297.4:c.965_966insTC VV NP_009228.2:p.Val323LeufsTer5
NM_007299.4:c.787+319_787+320insTC VV NP_009230.2:p.=
NM_007300.4:c.1106_1107insTC VV NP_009231.2:p.Val370LeufsTer5
NR_027676.2:n.1283_1284insTC
ENST00000352993.7:c.670+1421_670+1422insTC ENSP00000312236.5:p.=
ENST00000354071.7:c.1106_1107insTC ENSP00000326002.7:p.Val370LeufsTer5
ENST00000357654.7:c.1106_1107insTC ENSP00000350283.3:p.Val370LeufsTer5
ENST00000412061.3:n.457_458insTC
ENST00000461221.5:c.*889_*890insTC ENSP00000418548.1:p.=
ENST00000468300.5:c.787+319_787+320insTC ENSP00000417148.1:p.=
ENST00000470026.5:c.1106_1107insTC ENSP00000419274.1:p.Val370LeufsTer5
ENST00000471181.6:c.1106_1107insTC ENSP00000418960.2:p.Val370LeufsTer5
ENST00000473961.5:n.703_704insTC
ENST00000477152.5:c.1028_1029insTC ENSP00000419988.1:p.Val344LeufsTer5
ENST00000478531.5:c.784+319_784+320insTC ENSP00000420412.1:p.=
ENST00000484087.5:n.409+319_409+320insTC ENSP00000419481.1:p.=
ENST00000487825.5:n.412+319_412+320insTC ENSP00000418212.1:p.=
ENST00000491747.6:c.787+319_787+320insTC ENSP00000420705.2:p.=
ENST00000492859.5:c.*1042_*1043insTC ENSP00000420253.1:p.=
ENST00000493795.5:c.965_966insTC ENSP00000418775.1:p.Val323LeufsTer5
ENST00000493919.5:c.646+319_646+320insTC ENSP00000418819.1:p.=
ENST00000494123.5:c.1106_1107insTC ENSP00000419103.1:p.Val370LeufsTer5
ENST00000497488.1:c.218_219insTC ENSP00000418986.1:p.Val74LeufsTer5
ENST00000586385.5:c.5-30474_5-30473insTC ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-19904_-43-19903insTC ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+30846_-99+30847insTC ENSP00000465347.1:p.=
ENST00000634433.1:c.983_984insTC ENSP00000489431.1:p.Val329LeufsTer5