Canonical Allele Identifier: CA1752431553

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948551_150948552delinsCA , CM000669.2:g.150948551_150948552delinsCA	GRCh38
NC_000007.13:g.150645639_150645640delinsCA , CM000669.1:g.150645639_150645640delinsCA	GRCh37
NC_000007.12:g.150276572_150276573delinsCA	NCBI36
NG_008916.1:g.34375_34376delinsTG , LRG_288:g.34375_34376delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3426-9_3426-8delinsTG
ENST00000262186.10:c.2593-9_2593-8delinsTG MANE Select	ENSP00000262186.5:n.2593-9_2593-8delinsTG
ENST00000330883.9:c.1573-9_1573-8delinsTG	ENSP00000328531.4:n.1573-9_1573-8delinsTG
ENST00000262186.9:c.2593-9_2593-8delinsTG	ENSP00000262186.5:n.2593-9_2593-8delinsTG
ENST00000330883.8:c.1573-9_1573-8delinsTG	ENSP00000328531.4:n.1573-9_1573-8delinsTG
NM_000238.3:c.2593-9_2593-8delinsTG , LRG_288t1:c.2593-9_2593-8delinsTG	NP_000229.1:n.2593-9_2593-8delinsTG
NM_172057.2:c.1573-9_1573-8delinsTG , LRG_288t3:c.1573-9_1573-8delinsTG	NP_742054.1:n.1573-9_1573-8delinsTG
XM_011516185.1:c.2293-9_2293-8delinsTG	XP_011514487.1:n.2293-9_2293-8delinsTG
XM_011516186.1:c.2593-9_2593-8delinsTG	XP_011514488.1:n.2593-9_2593-8delinsTG
XM_011516185.2:c.2293-9_2293-8delinsTG	XP_011514487.1:n.2293-9_2293-8delinsTG
XM_011516186.3:c.2593-9_2593-8delinsTG	XP_011514488.1:n.2593-9_2593-8delinsTG
XM_017012195.1:c.2443-9_2443-8delinsTG	XP_016867684.1:n.2443-9_2443-8delinsTG
XM_017012196.1:c.2416-9_2416-8delinsTG	XP_016867685.1:n.2416-9_2416-8delinsTG
NM_000238.4:c.2593-9_2593-8delinsTG MANE Select	NP_000229.1:n.2593-9_2593-8delinsTG
NM_172057.3:c.1573-9_1573-8delinsTG	NP_742054.1:n.1573-9_1573-8delinsTG