LDH info

Canonical Allele Identifier: CA005965
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951481_150951482del , CM000669.2:g.150951481_150951482del GRCh38
NC_000007.13:g.150648569_150648570del , CM000669.1:g.150648569_150648570del GRCh37
NC_000007.12:g.150279502_150279503del NCBI36
NG_008916.1:g.31442_31443del , LRG_288:g.31442_31443del

Transcript Alleles

HGVS Amino-acid change
NM_000238.3:c.1908_1909del , LRG_288t1:c.1908_1909del NP_000229.1:p.Lys638AspfsTer16
NM_001204798.1:c.888_889del VV NP_001191727.1:p.Lys298AspfsTer16
NM_172056.2:c.1908_1909del , LRG_288t2:c.1908_1909del NP_742053.1:p.Lys638AspfsTer16
NM_172057.2:c.888_889del , LRG_288t3:c.888_889del NP_742054.1:p.Lys298AspfsTer16
XM_011516185.1:c.1608_1609del XP_011514487.1:p.Lys538AspfsTer16
XM_011516186.1:c.1908_1909del XP_011514488.1:p.Lys638AspfsTer16
XM_011516185.2:c.1608_1609del XP_011514487.1:p.Lys538AspfsTer16
XM_011516186.3:c.1908_1909del XP_011514488.1:p.Lys638AspfsTer16
XM_017012195.1:c.1758_1759del XP_016867684.1:p.Lys588AspfsTer16
XM_017012196.1:c.1731_1732del XP_016867685.1:p.Lys579AspfsTer16
NM_000238.4:c.1908_1909del VV MANE Preferred NP_000229.1:p.Lys638AspfsTer16
NM_001204798.2:c.888_889del VV NP_001191727.1:p.Lys298AspfsTer16
ENST00000262186.9:c.1908_1909del ENSP00000262186.5:p.Lys638AspfsTer16
ENST00000330883.8:c.888_889del ENSP00000328531.4:p.Lys298AspfsTer16
ENST00000430723.4:c.1560_1561del ENSP00000387657.4:p.Lys522AspfsTer16
ENST00000461280.1:n.1195_1196del
ENST00000473610.5:n.1213_1214del
ENST00000532957.5:n.2131_2132del