LDH info

Canonical Allele Identifier: CA16041168
Gene: PEX1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371694
dbSNP Id: rs1057517465

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517440del , CM000669.2:g.92517440del GRCh38
NC_000007.13:g.92146754del , CM000669.1:g.92146754del GRCh37
NC_000007.12:g.91984690del NCBI36
NG_008341.1:g.16093del
NG_008341.2:g.16093del

Transcript Alleles

HGVS Amino-acid change
NM_000466.2:c.1076del VV NP_000457.1:p.Lys359SerfsTer7
NM_001282677.1:c.1076del VV NP_001269606.1:p.Lys359SerfsTer7
NM_001282678.1:c.452del VV NP_001269607.1:p.Lys151SerfsTer7
XR_242246.3:n.1172del
XM_017012319.2:c.-591del XP_016867808.1:p.=
XR_001744808.2:n.186del
XR_242246.5:n.1123del
NM_000466.3:c.1076del VV MANE Preferred NP_000457.1:p.Lys359SerfsTer7
ENST00000248633.8:c.1076del ENSP00000248633.4:p.Lys359SerfsTer7
ENST00000428214.5:n.1076del ENSP00000394413.1:p.Lys359SerfsTer7
ENST00000438045.5:c.274-3472del ENSP00000410438.1:p.=
ENST00000484913.5:n.1115del