Canonical Allele Identifier: CA1752430602

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947924_150947925delinsGA , CM000669.2:g.150947924_150947925delinsGA	GRCh38
NC_000007.13:g.150645012_150645013delinsGA , CM000669.1:g.150645012_150645013delinsGA	GRCh37
NC_000007.12:g.150275945_150275946delinsGA	NCBI36
NG_008916.1:g.35002_35003delinsTC , LRG_288:g.35002_35003delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3526-47_3526-46delinsTC
ENST00000262186.10:c.2693-47_2693-46delinsTC MANE Select	ENSP00000262186.5:n.2693-47_2693-46delinsTC
ENST00000330883.9:c.1673-47_1673-46delinsTC	ENSP00000328531.4:n.1673-47_1673-46delinsTC
ENST00000262186.9:c.2693-47_2693-46delinsTC	ENSP00000262186.5:n.2693-47_2693-46delinsTC
ENST00000330883.8:c.1673-47_1673-46delinsTC	ENSP00000328531.4:n.1673-47_1673-46delinsTC
NM_000238.3:c.2693-47_2693-46delinsTC , LRG_288t1:c.2693-47_2693-46delinsTC	NP_000229.1:n.2693-47_2693-46delinsTC
NM_172057.2:c.1673-47_1673-46delinsTC , LRG_288t3:c.1673-47_1673-46delinsTC	NP_742054.1:n.1673-47_1673-46delinsTC
XM_011516185.1:c.2393-47_2393-46delinsTC	XP_011514487.1:n.2393-47_2393-46delinsTC
XM_011516186.1:c.2693-234_2693-233delinsTC	XP_011514488.1:n.2693-234_2693-233delinsTC
XM_011516185.2:c.2393-47_2393-46delinsTC	XP_011514487.1:n.2393-47_2393-46delinsTC
XM_011516186.3:c.2693-234_2693-233delinsTC	XP_011514488.1:n.2693-234_2693-233delinsTC
XM_017012195.1:c.2543-47_2543-46delinsTC	XP_016867684.1:n.2543-47_2543-46delinsTC
XM_017012196.1:c.2516-47_2516-46delinsTC	XP_016867685.1:n.2516-47_2516-46delinsTC
NM_000238.4:c.2693-47_2693-46delinsTC MANE Select	NP_000229.1:n.2693-47_2693-46delinsTC
NM_172057.3:c.1673-47_1673-46delinsTC	NP_742054.1:n.1673-47_1673-46delinsTC