Canonical Allele Identifier: CA1752428167

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947208_150947211delinsGGAA , CM000669.2:g.150947208_150947211delinsGGAA	GRCh38
NC_000007.13:g.150644296_150644299delinsGGAA , CM000669.1:g.150644296_150644299delinsGGAA	GRCh37
NC_000007.12:g.150275229_150275232delinsGGAA	NCBI36
NG_008916.1:g.35716_35719delinsTTCC , LRG_288:g.35716_35719delinsTTCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3985+117_3985+120delinsTTCC
ENST00000262186.10:c.3152+117_3152+120delinsTTCC MANE Select	ENSP00000262186.5:n.3152+117_3152+120deli...
ENST00000330883.9:c.2132+117_2132+120delinsTTCC	ENSP00000328531.4:n.2132+117_2132+120deli...
ENST00000262186.9:c.3152+117_3152+120delinsTTCC	ENSP00000262186.5:n.3152+117_3152+120deli...
ENST00000330883.8:c.2132+117_2132+120delinsTTCC	ENSP00000328531.4:n.2132+117_2132+120deli...
NM_000238.3:c.3152+117_3152+120delinsTTCC , LRG_288t1:c.3152+117_3152+120delinsTTCC	NP_000229.1:n.3152+117_3152+120delinsTTCC...
NM_172057.2:c.2132+117_2132+120delinsTTCC , LRG_288t3:c.2132+117_2132+120delinsTTCC	NP_742054.1:n.2132+117_2132+120delinsTTCC...
XM_011516185.1:c.2852+117_2852+120delinsTTCC	XP_011514487.1:n.2852+117_2852+120delinsT...
XM_011516185.2:c.2852+117_2852+120delinsTTCC	XP_011514487.1:n.2852+117_2852+120delinsT...
XM_017012195.1:c.3002+117_3002+120delinsTTCC	XP_016867684.1:n.3002+117_3002+120delinsT...
XM_017012196.1:c.2975+117_2975+120delinsTTCC	XP_016867685.1:n.2975+117_2975+120delinsT...
NM_000238.4:c.3152+117_3152+120delinsTTCC MANE Select	NP_000229.1:n.3152+117_3152+120delinsTTCC...
NM_172057.3:c.2132+117_2132+120delinsTTCC	NP_742054.1:n.2132+117_2132+120delinsTTCC...