Canonical Allele Identifier: CA1752428193

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947235_150947239delinsCACAG , CM000669.2:g.150947235_150947239delinsCACAG	GRCh38
NC_000007.13:g.150644323_150644327delinsCACAG , CM000669.1:g.150644323_150644327delinsCACAG	GRCh37
NC_000007.12:g.150275256_150275260delinsCACAG	NCBI36
NG_008916.1:g.35688_35692delinsCTGTG , LRG_288:g.35688_35692delinsCTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3985+89_3985+93delinsCTGTG
ENST00000262186.10:c.3152+89_3152+93delinsCTGTG MANE Select	ENSP00000262186.5:n.3152+89_3152+93delinsCTGTG
ENST00000330883.9:c.2132+89_2132+93delinsCTGTG	ENSP00000328531.4:n.2132+89_2132+93delinsCTGTG
ENST00000262186.9:c.3152+89_3152+93delinsCTGTG	ENSP00000262186.5:n.3152+89_3152+93delinsCTGTG
ENST00000330883.8:c.2132+89_2132+93delinsCTGTG	ENSP00000328531.4:n.2132+89_2132+93delinsCTGTG
NM_000238.3:c.3152+89_3152+93delinsCTGTG , LRG_288t1:c.3152+89_3152+93delinsCTGTG	NP_000229.1:n.3152+89_3152+93delinsCTGTG
NM_172057.2:c.2132+89_2132+93delinsCTGTG , LRG_288t3:c.2132+89_2132+93delinsCTGTG	NP_742054.1:n.2132+89_2132+93delinsCTGTG
XM_011516185.1:c.2852+89_2852+93delinsCTGTG	XP_011514487.1:n.2852+89_2852+93delinsCTGTG
XM_011516185.2:c.2852+89_2852+93delinsCTGTG	XP_011514487.1:n.2852+89_2852+93delinsCTGTG
XM_017012195.1:c.3002+89_3002+93delinsCTGTG	XP_016867684.1:n.3002+89_3002+93delinsCTGTG
XM_017012196.1:c.2975+89_2975+93delinsCTGTG	XP_016867685.1:n.2975+89_2975+93delinsCTGTG
NM_000238.4:c.3152+89_3152+93delinsCTGTG MANE Select	NP_000229.1:n.3152+89_3152+93delinsCTGTG
NM_172057.3:c.2132+89_2132+93delinsCTGTG	NP_742054.1:n.2132+89_2132+93delinsCTGTG