LDH info

Canonical Allele Identifier: CA16041417
Gene: ATM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371222
ClinVar RCV Id: RCV000412434
dbSNP Id: rs1057517101

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108302884del , CM000673.2:g.108302884del GRCh38
NC_000011.9:g.108173611del , CM000673.1:g.108173611del GRCh37
NC_000011.8:g.107678821del NCBI36
NG_009830.1:g.85053del , LRG_135:g.85053del

Transcript Alleles

HGVS Amino-acid change
NM_000051.3:c.5351del , LRG_135t1:c.5351del NP_000042.3:p.Asn1784ThrfsTer9
XM_005271561.3:c.5351del XP_005271618.2:p.Asn1784ThrfsTer9
XM_005271562.3:c.5351del XP_005271619.2:p.Asn1784ThrfsTer9
XM_006718843.2:c.5351del XP_006718906.1:p.Asn1784ThrfsTer9
XM_006718845.1:c.1307del XP_006718908.1:p.Asn436ThrfsTer9
XM_011542840.1:c.5351del XP_011541142.1:p.Asn1784ThrfsTer9
XM_011542841.1:c.5351del XP_011541143.1:p.Asn1784ThrfsTer9
XM_011542842.1:c.5186del XP_011541144.1:p.Asn1729ThrfsTer9
XM_011542843.1:c.5351del XP_011541145.1:p.Asn1784ThrfsTer9
XM_011542844.1:c.4307del XP_011541146.1:p.Asn1436ThrfsTer9
XM_011542845.1:c.4043del XP_011541147.1:p.Asn1348ThrfsTer9
XM_011542846.1:c.*9del XP_011541148.1:p.=
XM_011542847.1:c.422del XP_011541149.1:p.Asn141ThrfsTer9
NM_001351834.1:c.5351del VV NP_001338763.1:p.Asn1784ThrfsTer9
XM_005271562.5:c.5351del XP_005271619.2:p.Asn1784ThrfsTer9
XM_006718843.4:c.5351del XP_006718906.1:p.Asn1784ThrfsTer9
XM_006718845.2:c.1307del XP_006718908.1:p.Asn436ThrfsTer9
XM_011542840.3:c.5351del XP_011541142.1:p.Asn1784ThrfsTer9
XM_011542842.3:c.5186del XP_011541144.1:p.Asn1729ThrfsTer9
XM_011542843.2:c.5351del XP_011541145.1:p.Asn1784ThrfsTer9
XM_011542844.3:c.4307del XP_011541146.1:p.Asn1436ThrfsTer9
XM_011542845.2:c.4043del XP_011541147.1:p.Asn1348ThrfsTer9
XM_017017789.2:c.5351del XP_016873278.1:p.Asn1784ThrfsTer9
XM_017017790.2:c.5351del XP_016873279.1:p.Asn1784ThrfsTer9
XM_017017791.1:c.5351del XP_016873280.1:p.Asn1784ThrfsTer9
XM_017017792.2:c.*32del XP_016873281.1:p.=
XR_002957150.1:n.5951del
NM_001351834.2:c.5351del VV NP_001338763.1:p.Asn1784ThrfsTer9
ENST00000278616.8:c.5351del ENSP00000278616.4:p.Asn1784ThrfsTer9
ENST00000452508.6:c.5351del ENSP00000388058.2:p.Asn1784ThrfsTer9
ENST00000524792.5:n.1566del
ENST00000533690.5:n.755del
ENST00000534625.1:n.580del