Canonical Allele Identifier: CA1752420061

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959693_150959696delinsGTTC , CM000669.2:g.150959693_150959696delinsGTTC	GRCh38
NC_000007.13:g.150656781_150656784delinsGTTC , CM000669.1:g.150656781_150656784delinsGTTC	GRCh37
NC_000007.12:g.150287714_150287717delinsGTTC	NCBI36
NG_008916.1:g.23231_23234delinsGAAC , LRG_288:g.23231_23234delinsGAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1181_1184delinsGAAC
ENST00000262186.10:c.348_351delinsGAAC MANE Select	ENSP00000262186.5:p.Lys116=
ENST00000262186.9:c.348_351delinsGAAC	ENSP00000262186.5:p.Lys116=
ENST00000430723.4:c.171_174delinsGAAC	ENSP00000387657.4:p.Lys57=
ENST00000532957.5:n.571_574delinsGAAC
NM_000238.3:c.348_351delinsGAAC , LRG_288t1:c.348_351delinsGAAC	NP_000229.1:p.Lys116=
NM_172056.2:c.348_351delinsGAAC , LRG_288t2:c.348_351delinsGAAC	NP_742053.1:p.Lys116=
XM_011516185.1:c.48_51delinsGAAC	XP_011514487.1:p.Lys16=
XM_011516186.1:c.348_351delinsGAAC	XP_011514488.1:p.Lys116=
XM_011516185.2:c.48_51delinsGAAC	XP_011514487.1:p.Lys16=
XM_011516186.3:c.348_351delinsGAAC	XP_011514488.1:p.Lys116=
XM_017012195.1:c.198_201delinsGAAC	XP_016867684.1:p.Lys66=
XM_017012196.1:c.171_174delinsGAAC	XP_016867685.1:p.Lys57=
NM_000238.4:c.348_351delinsGAAC MANE Select	NP_000229.1:p.Lys116=