Canonical Allele Identifier: CA1752412109

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952720_150952721delinsGT , CM000669.2:g.150952720_150952721delinsGT	GRCh38
NC_000007.13:g.150649808_150649809delinsGT , CM000669.1:g.150649808_150649809delinsGT	GRCh37
NC_000007.12:g.150280741_150280742delinsGT	NCBI36
NG_008916.1:g.30206_30207delinsAC , LRG_288:g.30206_30207delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.559_560delinsAC
ENST00000684116.1:n.154_155delinsAC
ENST00000684241.1:n.2094_2095delinsAC
ENST00000262186.10:c.1261_1262delinsAC MANE Select	ENSP00000262186.5:p.Thr421=
ENST00000330883.9:c.241_242delinsAC	ENSP00000328531.4:p.Thr81=
ENST00000262186.9:c.1261_1262delinsAC	ENSP00000262186.5:p.Thr421=
ENST00000330883.8:c.241_242delinsAC	ENSP00000328531.4:p.Thr81=
ENST00000430723.4:c.913_914delinsAC	ENSP00000387657.4:p.Thr305=
ENST00000461280.1:n.548_549delinsAC
ENST00000473610.5:n.566_567delinsAC
ENST00000532957.5:n.1484_1485delinsAC
NM_000238.3:c.1261_1262delinsAC , LRG_288t1:c.1261_1262delinsAC	NP_000229.1:p.Thr421=
NM_001204798.1:c.241_242delinsAC	NP_001191727.1:p.Thr81=
NM_172056.2:c.1261_1262delinsAC , LRG_288t2:c.1261_1262delinsAC	NP_742053.1:p.Thr421=
NM_172057.2:c.241_242delinsAC , LRG_288t3:c.241_242delinsAC	NP_742054.1:p.Thr81=
XM_011516185.1:c.961_962delinsAC	XP_011514487.1:p.Thr321=
XM_011516186.1:c.1261_1262delinsAC	XP_011514488.1:p.Thr421=
XM_011516185.2:c.961_962delinsAC	XP_011514487.1:p.Thr321=
XM_011516186.3:c.1261_1262delinsAC	XP_011514488.1:p.Thr421=
XM_017012195.1:c.1111_1112delinsAC	XP_016867684.1:p.Thr371=
XM_017012196.1:c.1084_1085delinsAC	XP_016867685.1:p.Thr362=
NM_000238.4:c.1261_1262delinsAC MANE Select	NP_000229.1:p.Thr421=
NM_001204798.2:c.241_242delinsAC	NP_001191727.1:p.Thr81=
NM_172057.3:c.241_242delinsAC	NP_742054.1:p.Thr81=