LDH info

Canonical Allele Identifier: CA16040945
Gene: F11 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370362
ClinVar RCV Id: RCV000410660
dbSNP Id: rs1057516431

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186280320_186280321del , CM000666.2:g.186280320_186280321del GRCh38
NC_000004.11:g.187201474_187201475del , CM000666.1:g.187201474_187201475del GRCh37
NC_000004.10:g.187438468_187438469del NCBI36
NG_008051.1:g.19357_19358del , LRG_583:g.19357_19358del

Transcript Alleles

HGVS Amino-acid change
NM_000128.3:c.963_964del , LRG_583t1:c.963_964del NP_000119.1:p.Thr322GlnfsTer?
XM_005262821.2:c.963_964del XP_005262878.1:p.Thr322GlnfsTer?
XM_005262822.2:c.963_964del XP_005262879.1:p.Thr322GlnfsTer?
XM_005262823.2:c.693_694del XP_005262880.1:p.Thr232GlnfsTer?
XM_005262824.1:c.963_964del XP_005262881.1:p.Thr322GlnfsTer?
XM_006714137.1:c.915_916del XP_006714200.1:p.Thr306GlnfsTer?
XR_938706.1:n.1315_1316del
XR_938707.1:n.1315_1316del
XM_005262821.4:c.963_964del XP_005262878.1:p.Thr322GlnfsTer?
XM_005262822.4:c.963_964del XP_005262879.1:p.Thr322GlnfsTer?
XM_005262823.4:c.693_694del XP_005262880.1:p.Thr232GlnfsTer?
XM_006714137.3:c.915_916del XP_006714200.1:p.Thr306GlnfsTer?
XM_017007884.2:c.963_964del XP_016863373.1:p.Thr322GlnfsTer?
XM_017007885.2:c.963_964del XP_016863374.1:p.Thr322GlnfsTer?
XM_017007886.2:c.963_964del XP_016863375.1:p.Thr322GlnfsTer?
XR_001741172.2:n.1296_1297del
NM_000128.4:c.963_964del VV MANE Preferred NP_000119.1:p.Thr322GlnfsTer?
ENST00000264692.8:c.801_802del ENSP00000264692.5:p.Thr268GlnfsTer?
ENST00000403665.6:c.963_964del ENSP00000384957.2:p.Thr322GlnfsTer?
ENST00000452239.1:n.410_411del