LDH info

Canonical Allele Identifier: CA658656246
Gene: ATM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 453490
ClinVar RCV Id: RCV000526399
dbSNP Id: rs1555093256

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108284224_108284231del , CM000673.2:g.108284224_108284231del GRCh38
NC_000011.9:g.108154951_108154958del , CM000673.1:g.108154951_108154958del GRCh37
NC_000011.8:g.107660161_107660168del NCBI36
NG_009830.1:g.66393_66400del , LRG_135:g.66393_66400del

Transcript Alleles

HGVS Amino-acid change
NM_000051.3:c.3747-3_3751del , LRG_135t1:c.3747-3_3751del
XM_005271561.3:c.3747-3_3751del
XM_005271562.3:c.3747-3_3751del
XM_006718843.2:c.3747-3_3751del
XM_011542840.1:c.3747-3_3751del
XM_011542841.1:c.3747-3_3751del
XM_011542842.1:c.3582-3_3586del
XM_011542843.1:c.3747-3_3751del
XM_011542844.1:c.2703-3_2707del
XM_011542845.1:c.2439-3_2443del
XM_011542846.1:c.3747-3_3751del
NM_001351834.1:c.3747-3_3751del VV
XM_005271562.5:c.3747-3_3751del
XM_006718843.4:c.3747-3_3751del
XM_011542840.3:c.3747-3_3751del
XM_011542842.3:c.3582-3_3586del
XM_011542843.2:c.3747-3_3751del
XM_011542844.3:c.2703-3_2707del
XM_011542845.2:c.2439-3_2443del
XM_017017789.2:c.3747-3_3751del
XM_017017790.2:c.3747-3_3751del
XM_017017791.1:c.3747-3_3751del
XM_017017792.2:c.3747-3_3751del
XR_002957150.1:n.4480-3_4484del
NM_001351834.2:c.3747-3_3751del VV
ENST00000278616.8:c.3747-3_3751del
ENST00000452508.6:c.3747-3_3751del
ENST00000527805.5:c.3747-3_3751del