Canonical Allele Identifier: CA1752442129

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150975155_150975156delinsTC , CM000669.2:g.150975155_150975156delinsTC	GRCh38
NC_000007.13:g.150672243_150672244delinsTC , CM000669.1:g.150672243_150672244delinsTC	GRCh37
NC_000007.12:g.150303176_150303177delinsTC	NCBI36
NG_008916.1:g.7771_7772delinsGA , LRG_288:g.7771_7772delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.77-215_77-214delinsGA MANE Select	ENSP00000262186.5:n.77-215_77-214delinsGA
ENST00000262186.9:c.77-215_77-214delinsGA	ENSP00000262186.5:n.77-215_77-214delinsGA
ENST00000430723.4:c.-101-215_-101-214delinsGA	ENSP00000387657.4:n.-101-215_-101-214delinsGA
ENST00000532957.5:n.300-215_300-214delinsGA
NM_000238.3:c.77-215_77-214delinsGA , LRG_288t1:c.77-215_77-214delinsGA	NP_000229.1:n.77-215_77-214delinsGA
NM_172056.2:c.77-215_77-214delinsGA , LRG_288t2:c.77-215_77-214delinsGA	NP_742053.1:n.77-215_77-214delinsGA
XM_011516186.1:c.77-215_77-214delinsGA	XP_011514488.1:n.77-215_77-214delinsGA
XM_011516186.3:c.77-215_77-214delinsGA	XP_011514488.1:n.77-215_77-214delinsGA
NM_000238.4:c.77-215_77-214delinsGA MANE Select	NP_000229.1:n.77-215_77-214delinsGA