LDH info

Canonical Allele Identifier: CA16041329
Gene: GRHPR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371124
ClinVar RCV Id: RCV000411789
dbSNP Id: rs1057517026

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428520_37428521del , CM000671.2:g.37428520_37428521del GRCh38
NC_000009.11:g.37428517_37428518del , CM000671.1:g.37428517_37428518del GRCh37
NC_000009.10:g.37418517_37418518del NCBI36
NG_008135.1:g.10811_10812del

Transcript Alleles

HGVS Amino-acid change
NM_012203.1:c.441_442del VV NP_036335.1:p.Cys147TrpfsTer?
XM_005251631.1:c.120_121del XP_005251688.1:p.Cys40TrpfsTer?
XM_011518073.1:c.-322_-321del XP_011516375.1:p.=
XR_929374.1:n.526_527del
XM_017015320.2:c.441_442del XP_016870809.1:p.Cys147TrpfsTer?
XM_017015321.2:c.441_442del XP_016870810.1:p.Cys147TrpfsTer?
XM_017015323.2:c.-322_-321del XP_016870812.1:p.=
XM_024447716.1:c.714_715del XP_024303484.1:p.Cys238TrpfsTer?
XM_024447717.1:c.714_715del XP_024303485.1:p.Cys238TrpfsTer?
XR_002956828.1:n.729_730del
XR_002956829.1:n.729_730del
XR_002956830.1:n.500_501del
XR_002956831.1:n.175_176del
XR_002956832.1:n.500_501del
NM_012203.2:c.441_442del VV MANE Preferred NP_036335.1:p.Cys147TrpfsTer?
ENST00000318158.10:c.441_442del ENSP00000313432.6:p.Cys147TrpfsTer?
ENST00000377824.8:n.478_479del
ENST00000460882.5:n.468_469del
ENST00000491488.5:n.146_147del
ENST00000493368.5:n.498_499del
ENST00000497693.1:n.815_816del
ENST00000607784.1:c.441_442del ENSP00000475569.1:p.Cys147TrpfsTer?