LDH info

Canonical Allele Identifier: CA16041390
Gene: ATM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370313
ClinVar RCV Id: RCV000409458
dbSNP Id: rs1057516393

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108256255dup , CM000673.2:g.108256255dup GRCh38
NC_000011.9:g.108126982dup , CM000673.1:g.108126982dup GRCh37
NC_000011.8:g.107632192dup NCBI36
NG_009830.1:g.38424dup , LRG_135:g.38424dup

Transcript Alleles

HGVS Amino-acid change
NM_000051.3:c.2165dup , LRG_135t1:c.2165dup NP_000042.3:p.Leu722PhefsTer16
XM_005271561.3:c.2165dup XP_005271618.2:p.Leu722PhefsTer16
XM_005271562.3:c.2165dup XP_005271619.2:p.Leu722PhefsTer16
XM_006718843.2:c.2165dup XP_006718906.1:p.Leu722PhefsTer16
XM_011542840.1:c.2165dup XP_011541142.1:p.Leu722PhefsTer16
XM_011542841.1:c.2165dup XP_011541143.1:p.Leu722PhefsTer16
XM_011542842.1:c.2000dup XP_011541144.1:p.Leu667PhefsTer16
XM_011542843.1:c.2165dup XP_011541145.1:p.Leu722PhefsTer16
XM_011542844.1:c.1121dup XP_011541146.1:p.Leu374PhefsTer16
XM_011542845.1:c.857dup XP_011541147.1:p.Leu286PhefsTer16
XM_011542846.1:c.2165dup XP_011541148.1:p.Leu722PhefsTer16
NM_001351834.1:c.2165dup VV NP_001338763.1:p.Leu722PhefsTer16
XM_005271562.5:c.2165dup XP_005271619.2:p.Leu722PhefsTer16
XM_006718843.4:c.2165dup XP_006718906.1:p.Leu722PhefsTer16
XM_011542840.3:c.2165dup XP_011541142.1:p.Leu722PhefsTer16
XM_011542842.3:c.2000dup XP_011541144.1:p.Leu667PhefsTer16
XM_011542843.2:c.2165dup XP_011541145.1:p.Leu722PhefsTer16
XM_011542844.3:c.1121dup XP_011541146.1:p.Leu374PhefsTer16
XM_011542845.2:c.857dup XP_011541147.1:p.Leu286PhefsTer16
XM_017017789.2:c.2165dup XP_016873278.1:p.Leu722PhefsTer16
XM_017017790.2:c.2165dup XP_016873279.1:p.Leu722PhefsTer16
XM_017017791.1:c.2165dup XP_016873280.1:p.Leu722PhefsTer16
XM_017017792.2:c.2165dup XP_016873281.1:p.Leu722PhefsTer16
XR_002957150.1:n.2898dup
NM_001351834.2:c.2165dup VV NP_001338763.1:p.Leu722PhefsTer16
ENST00000278616.8:c.2165dup ENSP00000278616.4:p.Leu722PhefsTer16
ENST00000452508.6:c.2165dup ENSP00000388058.2:p.Leu722PhefsTer16
ENST00000527805.5:c.2165dup ENSP00000435747.1:p.Leu722PhefsTer16