Canonical Allele Identifier: CA2685604958
Gene: KCNH2 HGNC NCBI

Linked Data

gnomAD v4: 7-150974867-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974868del , CM000669.2:g.150974868del GRCh38
NC_000007.13:g.150671956del , CM000669.1:g.150671956del GRCh37
NC_000007.12:g.150302889del NCBI36
NG_008916.1:g.8059del , LRG_288:g.8059del

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.150del MANE Select ENSP00000262186.5:p.Glu50AspfsTer10
ENST00000262186.9:c.150del ENSP00000262186.5:p.Glu50AspfsTer10
ENST00000430723.4:c.-28del ENSP00000387657.4:n.-28del
ENST00000532957.5:n.373del
NM_000238.3:c.150del , LRG_288t1:c.150del NP_000229.1:p.Glu50AspfsTer10
NM_172056.2:c.150del , LRG_288t2:c.150del NP_742053.1:p.Glu50AspfsTer10
XM_011516186.1:c.150del XP_011514488.1:p.Glu50AspfsTer10
XM_011516186.3:c.150del XP_011514488.1:p.Glu50AspfsTer10
XM_017012196.1:c.-28del XP_016867685.1:n.-28del
NM_000238.4:c.150del MANE Select NP_000229.1:p.Glu50AspfsTer10
Search 100 bp 5'
Search 100 bp 3'