LDH info

Canonical Allele Identifier: CA251535
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 604

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894806_102894808del , CM000674.2:g.102894806_102894808del GRCh38
NC_000012.11:g.103288584_103288586del , CM000674.1:g.103288584_103288586del GRCh37
NC_000012.10:g.101812714_101812716del NCBI36
NG_008690.1:g.27800_27802del
NG_008690.2:g.68608_68610del

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.284_286del VV NP_000268.1:p.Ile95del
XM_011538422.1:c.284_286del XP_011536724.1:p.Ile95del
NM_000277.2:c.284_286del VV NP_000268.1:p.Ile95del
NM_001354304.1:c.284_286del VV NP_001341233.1:p.Ile95del
XM_017019370.2:c.284_286del XP_016874859.1:p.Ile95del
NM_000277.3:c.284_286del VV MANE Preferred NP_000268.1:p.Ile95del
ENST00000307000.7:c.269_271del ENSP00000303500.2:p.Ile90del
ENST00000546844.1:c.284_286del ENSP00000446658.1:p.Ile95del
ENST00000548677.2:n.371_373del
ENST00000548928.1:n.206_208del
ENST00000549111.5:n.380_382del
ENST00000550978.6:n.268_270del
ENST00000551337.5:c.284_286del ENSP00000447620.1:p.Ile95del
ENST00000551988.5:n.373_375del
ENST00000553106.5:c.284_286del ENSP00000448059.1:p.Ile95del