Canonical Allele Identifier: CA1752431740

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948801_150948802delinsCA , CM000669.2:g.150948801_150948802delinsCA	GRCh38
NC_000007.13:g.150645889_150645890delinsCA , CM000669.1:g.150645889_150645890delinsCA	GRCh37
NC_000007.12:g.150276822_150276823delinsCA	NCBI36
NG_008916.1:g.34125_34126delinsTG , LRG_288:g.34125_34126delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3425+54_3425+55delinsTG
ENST00000262186.10:c.2592+54_2592+55delinsTG MANE Select	ENSP00000262186.5:n.2592+54_2592+55delins...
ENST00000330883.9:c.1572+54_1572+55delinsTG	ENSP00000328531.4:n.1572+54_1572+55delins...
ENST00000262186.9:c.2592+54_2592+55delinsTG	ENSP00000262186.5:n.2592+54_2592+55delins...
ENST00000330883.8:c.1572+54_1572+55delinsTG	ENSP00000328531.4:n.1572+54_1572+55delins...
NM_000238.3:c.2592+54_2592+55delinsTG , LRG_288t1:c.2592+54_2592+55delinsTG	NP_000229.1:n.2592+54_2592+55delinsTG
NM_172057.2:c.1572+54_1572+55delinsTG , LRG_288t3:c.1572+54_1572+55delinsTG	NP_742054.1:n.1572+54_1572+55delinsTG
XM_011516185.1:c.2292+54_2292+55delinsTG	XP_011514487.1:n.2292+54_2292+55delinsTG
XM_011516186.1:c.2592+54_2592+55delinsTG	XP_011514488.1:n.2592+54_2592+55delinsTG
XM_011516185.2:c.2292+54_2292+55delinsTG	XP_011514487.1:n.2292+54_2292+55delinsTG
XM_011516186.3:c.2592+54_2592+55delinsTG	XP_011514488.1:n.2592+54_2592+55delinsTG
XM_017012195.1:c.2442+54_2442+55delinsTG	XP_016867684.1:n.2442+54_2442+55delinsTG
XM_017012196.1:c.2415+54_2415+55delinsTG	XP_016867685.1:n.2415+54_2415+55delinsTG
NM_000238.4:c.2592+54_2592+55delinsTG MANE Select	NP_000229.1:n.2592+54_2592+55delinsTG
NM_172057.3:c.1572+54_1572+55delinsTG	NP_742054.1:n.1572+54_1572+55delinsTG