LDH info

Canonical Allele Identifier: CA008822
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 200614
ClinVar RCV Id: RCV000181964
dbSNP Id: rs794728426

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958163_150958166delinsGCTTTT , CM000669.2:g.150958163_150958166delinsGCTTTT GRCh38
NC_000007.13:g.150655251_150655254delinsGCTTTT , CM000669.1:g.150655251_150655254delinsGCTTTT GRCh37
NC_000007.12:g.150286184_150286187delinsGCTTTT NCBI36
NG_008916.1:g.24761_24764delinsAAAAGC , LRG_288:g.24761_24764delinsAAAAGC

Transcript Alleles

HGVS Amino-acid change
NM_000238.3:c.809_812delinsAAAAGC , LRG_288t1:c.809_812delinsAAAAGC NP_000229.1:p.Thr270LysfsTer?
NM_172056.2:c.809_812delinsAAAAGC , LRG_288t2:c.809_812delinsAAAAGC NP_742053.1:p.Thr270LysfsTer?
XM_011516185.1:c.509_512delinsAAAAGC XP_011514487.1:p.Thr170LysfsTer?
XM_011516186.1:c.809_812delinsAAAAGC XP_011514488.1:p.Thr270LysfsTer?
XM_011516185.2:c.509_512delinsAAAAGC XP_011514487.1:p.Thr170LysfsTer?
XM_011516186.3:c.809_812delinsAAAAGC XP_011514488.1:p.Thr270LysfsTer?
XM_017012195.1:c.659_662delinsAAAAGC XP_016867684.1:p.Thr220LysfsTer?
XM_017012196.1:c.632_635delinsAAAAGC XP_016867685.1:p.Thr211LysfsTer?
NM_000238.4:c.809_812delinsAAAAGC VV MANE Preferred NP_000229.1:p.Thr270LysfsTer?
ENST00000262186.9:c.809_812delinsAAAAGC ENSP00000262186.5:p.Thr270LysfsTer?
ENST00000430723.4:c.461_464delinsAAAAGC ENSP00000387657.4:p.Thr154LysfsTer?
ENST00000532957.5:n.1032_1035delinsAAAAGC