LDH info

Canonical Allele Identifier: CA16041400
Gene: ATM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370383
ClinVar RCV Id: RCV000411536
dbSNP Id: rs1057516446

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108279557_108279560del , CM000673.2:g.108279557_108279560del GRCh38
NC_000011.9:g.108150284_108150287del , CM000673.1:g.108150284_108150287del GRCh37
NC_000011.8:g.107655494_107655497del NCBI36
NG_009830.1:g.61726_61729del , LRG_135:g.61726_61729del

Transcript Alleles

HGVS Amino-acid change
NM_000051.3:c.3351_3354del , LRG_135t1:c.3351_3354del NP_000042.3:p.Thr1118LeufsTer7
XM_005271561.3:c.3351_3354del XP_005271618.2:p.Thr1118LeufsTer7
XM_005271562.3:c.3351_3354del XP_005271619.2:p.Thr1118LeufsTer7
XM_006718843.2:c.3351_3354del XP_006718906.1:p.Thr1118LeufsTer7
XM_011542840.1:c.3351_3354del XP_011541142.1:p.Thr1118LeufsTer7
XM_011542841.1:c.3351_3354del XP_011541143.1:p.Thr1118LeufsTer7
XM_011542842.1:c.3186_3189del XP_011541144.1:p.Thr1063LeufsTer7
XM_011542843.1:c.3351_3354del XP_011541145.1:p.Thr1118LeufsTer7
XM_011542844.1:c.2307_2310del XP_011541146.1:p.Thr770LeufsTer7
XM_011542845.1:c.2043_2046del XP_011541147.1:p.Thr682LeufsTer7
XM_011542846.1:c.3351_3354del XP_011541148.1:p.Thr1118LeufsTer7
NM_001351834.1:c.3351_3354del VV NP_001338763.1:p.Thr1118LeufsTer7
XM_005271562.5:c.3351_3354del XP_005271619.2:p.Thr1118LeufsTer7
XM_006718843.4:c.3351_3354del XP_006718906.1:p.Thr1118LeufsTer7
XM_011542840.3:c.3351_3354del XP_011541142.1:p.Thr1118LeufsTer7
XM_011542842.3:c.3186_3189del XP_011541144.1:p.Thr1063LeufsTer7
XM_011542843.2:c.3351_3354del XP_011541145.1:p.Thr1118LeufsTer7
XM_011542844.3:c.2307_2310del XP_011541146.1:p.Thr770LeufsTer7
XM_011542845.2:c.2043_2046del XP_011541147.1:p.Thr682LeufsTer7
XM_017017789.2:c.3351_3354del XP_016873278.1:p.Thr1118LeufsTer7
XM_017017790.2:c.3351_3354del XP_016873279.1:p.Thr1118LeufsTer7
XM_017017791.1:c.3351_3354del XP_016873280.1:p.Thr1118LeufsTer7
XM_017017792.2:c.3351_3354del XP_016873281.1:p.Thr1118LeufsTer7
XR_002957150.1:n.4084_4087del
NM_001351834.2:c.3351_3354del VV NP_001338763.1:p.Thr1118LeufsTer7
ENST00000278616.8:c.3351_3354del ENSP00000278616.4:p.Thr1118LeufsTer7
ENST00000452508.6:c.3351_3354del ENSP00000388058.2:p.Thr1118LeufsTer7
ENST00000527805.5:c.3351_3354del ENSP00000435747.1:p.Thr1118LeufsTer7