LDH info

Canonical Allele Identifier: CA274203
Gene: PEX1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 188971
ClinVar RCV Id: RCV000169346
dbSNP Id: rs61750423

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92496766del , CM000669.2:g.92496766del GRCh38
NC_000007.13:g.92126080del , CM000669.1:g.92126080del GRCh37
NC_000007.12:g.91964016del NCBI36
NG_008341.1:g.36766del
NG_008341.2:g.36766del

Transcript Alleles

HGVS Amino-acid change
NM_000466.2:c.2730del VV NP_000457.1:p.Leu910PhefsTer?
NM_001282677.1:c.2559del VV NP_001269606.1:p.Leu853PhefsTer?
NM_001282678.1:c.2106del VV NP_001269607.1:p.Leu702PhefsTer?
XM_005250433.3:c.981del XP_005250490.1:p.Leu327PhefsTer?
XR_242246.3:n.2826del
XM_017012319.2:c.981del XP_016867808.1:p.Leu327PhefsTer?
XR_001744808.2:n.1757del
XR_242246.5:n.2777del
NM_000466.3:c.2730del VV MANE Preferred NP_000457.1:p.Leu910PhefsTer?
ENST00000248633.8:c.2730del ENSP00000248633.4:p.Leu910PhefsTer?
ENST00000428214.5:n.2559del ENSP00000394413.1:p.Leu853PhefsTer?
ENST00000438045.5:c.1764del ENSP00000410438.1:p.Leu588PhefsTer?
ENST00000484913.5:n.2769del
ENST00000496420.5:n.2622del