LDH info

Canonical Allele Identifier: CA220973
Gene: PEX1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 93102
dbSNP Id: rs398123408

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504843_92504851dup , CM000669.2:g.92504843_92504851dup GRCh38
NC_000007.13:g.92134157_92134165dup , CM000669.1:g.92134157_92134165dup GRCh37
NC_000007.12:g.91972093_91972101dup NCBI36
NG_008341.1:g.28681_28689dup
NG_008341.2:g.28681_28689dup

Transcript Alleles

HGVS Amino-acid change
NM_000466.2:c.1952_1960dup VV NP_000457.1:p.Trp653_Met654insThrValTrp
NM_001282677.1:c.1900+1397_1900+1405dup VV NP_001269606.1:p.=
NM_001282678.1:c.1328_1336dup VV NP_001269607.1:p.Trp445_Met446insThrValTr...
XM_005250433.3:c.203_211dup XP_005250490.1:p.Trp70_Met71insThrValTrp
XR_242246.3:n.2048_2056dup
XM_017012319.2:c.203_211dup XP_016867808.1:p.Trp70_Met71insThrValTrp
XR_001744808.2:n.979_987dup
XR_242246.5:n.1999_2007dup
NM_000466.3:c.1952_1960dup VV MANE Preferred NP_000457.1:p.Trp653_Met654insThrValTrp
NM_001282677.2:c.1900+1397_1900+1405dup VV NP_001269606.1:p.=
NM_001282678.2:c.1328_1336dup VV NP_001269607.1:p.Trp445_Met446insThrValTr...
ENST00000248633.8:c.1952_1960dup ENSP00000248633.4:p.Trp653_Met654insThrVa...
ENST00000428214.5:n.1900+1397_1900+1405dup ENSP00000394413.1:p.=
ENST00000438045.5:c.986_994dup ENSP00000410438.1:p.Trp331_Met332insThrVa...
ENST00000484913.5:n.1991_1999dup
ENST00000496420.5:n.1628_1636dup