LDH info

Canonical Allele Identifier: CA2649373
Gene: ATR HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs781260235

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142470129_142470130del , CM000665.2:g.142470129_142470130del GRCh38
NC_000003.11:g.142188971_142188972del , CM000665.1:g.142188971_142188972del GRCh37
NC_000003.10:g.143671661_143671662del NCBI36
NG_008951.1:g.113699_113700del

Transcript Alleles

HGVS Amino-acid change
NM_001184.3:c.6277_6278del VV NP_001175.2:p.Leu2093MetfsTer3
XM_011512924.1:c.6283_6284del XP_011511226.1:p.Leu2095MetfsTer3
XM_011512925.1:c.6091_6092del XP_011511227.1:p.Leu2031MetfsTer3
XR_924147.1:n.6372_6373del
XR_924148.1:n.6372_6373del
XR_924149.1:n.6251_6252del
NM_001354579.1:c.6085_6086del VV NP_001341508.1:p.Leu2029MetfsTer3
XR_001740179.2:n.6366_6367del
XR_001740180.2:n.6420_6421del
XR_001740181.2:n.6299_6300del
XR_001740182.1:n.6251_6252del
XR_002959543.1:n.6476_6477del
XR_924148.2:n.6372_6373del
NM_001184.4:c.6277_6278del VV MANE Preferred NP_001175.2:p.Leu2093MetfsTer3
NM_001354579.2:c.6085_6086del VV NP_001341508.1:p.Leu2029MetfsTer3
ENST00000350721.8:c.6277_6278del ENSP00000343741.4:p.Leu2093MetfsTer3