LDH info

Canonical Allele Identifier: CA16041385
Gene: ATM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370725
ClinVar RCV Id: RCV000411456
dbSNP Id: rs1057516721

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108251970_108251971del , CM000673.2:g.108251970_108251971del GRCh38
NC_000011.9:g.108122697_108122698del , CM000673.1:g.108122697_108122698del GRCh37
NC_000011.8:g.107627907_107627908del NCBI36
NG_009830.1:g.34139_34140del , LRG_135:g.34139_34140del

Transcript Alleles

HGVS Amino-acid change
NM_000051.3:c.1741_1742del , LRG_135t1:c.1741_1742del NP_000042.3:p.Leu581IlefsTer7
XM_005271561.3:c.1741_1742del XP_005271618.2:p.Leu581IlefsTer7
XM_005271562.3:c.1741_1742del XP_005271619.2:p.Leu581IlefsTer7
XM_006718843.2:c.1741_1742del XP_006718906.1:p.Leu581IlefsTer7
XM_011542840.1:c.1741_1742del XP_011541142.1:p.Leu581IlefsTer7
XM_011542841.1:c.1741_1742del XP_011541143.1:p.Leu581IlefsTer7
XM_011542842.1:c.1576_1577del XP_011541144.1:p.Leu526IlefsTer7
XM_011542843.1:c.1741_1742del XP_011541145.1:p.Leu581IlefsTer7
XM_011542844.1:c.697_698del XP_011541146.1:p.Leu233IlefsTer7
XM_011542845.1:c.433_434del XP_011541147.1:p.Leu145IlefsTer7
XM_011542846.1:c.1741_1742del XP_011541148.1:p.Leu581IlefsTer7
NM_001351834.1:c.1741_1742del VV NP_001338763.1:p.Leu581IlefsTer7
XM_005271562.5:c.1741_1742del XP_005271619.2:p.Leu581IlefsTer7
XM_006718843.4:c.1741_1742del XP_006718906.1:p.Leu581IlefsTer7
XM_011542840.3:c.1741_1742del XP_011541142.1:p.Leu581IlefsTer7
XM_011542842.3:c.1576_1577del XP_011541144.1:p.Leu526IlefsTer7
XM_011542843.2:c.1741_1742del XP_011541145.1:p.Leu581IlefsTer7
XM_011542844.3:c.697_698del XP_011541146.1:p.Leu233IlefsTer7
XM_011542845.2:c.433_434del XP_011541147.1:p.Leu145IlefsTer7
XM_017017789.2:c.1741_1742del XP_016873278.1:p.Leu581IlefsTer7
XM_017017790.2:c.1741_1742del XP_016873279.1:p.Leu581IlefsTer7
XM_017017791.1:c.1741_1742del XP_016873280.1:p.Leu581IlefsTer7
XM_017017792.2:c.1741_1742del XP_016873281.1:p.Leu581IlefsTer7
XR_002957150.1:n.2474_2475del
NM_001351834.2:c.1741_1742del VV NP_001338763.1:p.Leu581IlefsTer7
ENST00000278616.8:c.1741_1742del ENSP00000278616.4:p.Leu581IlefsTer7
ENST00000452508.6:c.1741_1742del ENSP00000388058.2:p.Leu581IlefsTer7
ENST00000527805.5:c.1741_1742del ENSP00000435747.1:p.Leu581IlefsTer7