LDH info

Canonical Allele Identifier: CA127412
Gene: NPPA HGNC NCBI
NPPA-AS1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17788
ClinVar RCV Id: RCV000019366
dbSNP Id: rs587776851

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11846008_11846009del , CM000663.2:g.11846008_11846009del GRCh38
NC_000001.10:g.11906065_11906066del , CM000663.1:g.11906065_11906066del GRCh37
NC_000001.9:g.11828652_11828653del NCBI36
NG_012926.1:g.6775_6776del , LRG_751:g.6775_6776del

Transcript Alleles

HGVS Amino-acid change
NM_006172.3:c.456_*1del , LRG_751t1:c.456_*1del (NPPA) NP_006163.1:p.Ter152TrpextTer13
NR_037806.1:n.1479+242_1479+243del (NPPA-AS1)
NM_006172.4:c.456_*1del (NPPA) VV NP_006163.1:p.Ter152TrpextTer13
ENST00000376476.1:c.306_*1del ENSP00000365659.1:p.Ter102TrpextTer13
ENST00000376480.7:c.456_*1del ENSP00000365663.3:p.Ter152TrpextTer13
ENST00000610706.1:c.454-1_454del