LDH info

Canonical Allele Identifier: CA16041171
Gene: PEX1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371769
dbSNP Id: rs1057517522

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517783del , CM000669.2:g.92517783del GRCh38
NC_000007.13:g.92147097del , CM000669.1:g.92147097del GRCh37
NC_000007.12:g.91985033del NCBI36
NG_008341.1:g.15751del
NG_008341.2:g.15751del

Transcript Alleles

HGVS Amino-acid change
NM_000466.2:c.734del VV NP_000457.1:p.Leu245TyrfsTer4
NM_001282677.1:c.734del VV NP_001269606.1:p.Leu245TyrfsTer4
NM_001282678.1:c.110del VV NP_001269607.1:p.Leu37TyrfsTer4
XR_242246.3:n.830del
XR_242246.5:n.781del
NM_000466.3:c.734del VV MANE Preferred NP_000457.1:p.Leu245TyrfsTer4
NM_001282677.2:c.734del VV NP_001269606.1:p.Leu245TyrfsTer4
NM_001282678.2:c.110del VV NP_001269607.1:p.Leu37TyrfsTer4
ENST00000248633.8:c.734del ENSP00000248633.4:p.Leu245TyrfsTer4
ENST00000428214.5:n.734del ENSP00000394413.1:p.Leu245TyrfsTer4
ENST00000438045.5:c.274-3814del ENSP00000410438.1:p.=
ENST00000484913.5:n.773del