Canonical Allele Identifier: CA1752430826

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948160_150948162delinsCTA , CM000669.2:g.150948160_150948162delinsCTA	GRCh38
NC_000007.13:g.150645248_150645250delinsCTA , CM000669.1:g.150645248_150645250delinsCTA	GRCh37
NC_000007.12:g.150276181_150276183delinsCTA	NCBI36
NG_008916.1:g.34765_34767delinsTAG , LRG_288:g.34765_34767delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+282_3526-282delinsTAG
ENST00000262186.10:c.2692+282_2693-282delinsTAG MANE Select	ENSP00000262186.5:n.2692+282_2693-282delinsTAG
ENST00000330883.9:c.1672+282_1673-282delinsTAG	ENSP00000328531.4:n.1672+282_1673-282delinsTAG
ENST00000262186.9:c.2692+282_2693-282delinsTAG	ENSP00000262186.5:n.2692+282_2693-282delinsTAG
ENST00000330883.8:c.1672+282_1673-282delinsTAG	ENSP00000328531.4:n.1672+282_1673-282delinsTAG
NM_000238.3:c.2692+282_2693-282delinsTAG , LRG_288t1:c.2692+282_2693-282delinsTAG	NP_000229.1:n.2692+282_2693-282delinsTAG
NM_172057.2:c.1672+282_1673-282delinsTAG , LRG_288t3:c.1672+282_1673-282delinsTAG	NP_742054.1:n.1672+282_1673-282delinsTAG
XM_011516185.1:c.2392+282_2393-282delinsTAG	XP_011514487.1:n.2392+282_2393-282delinsTAG
XM_011516186.1:c.2692+282_2692+284delinsTAG	XP_011514488.1:n.2692+282_2692+284delinsTAG
XM_011516185.2:c.2392+282_2393-282delinsTAG	XP_011514487.1:n.2392+282_2393-282delinsTAG
XM_011516186.3:c.2692+282_2692+284delinsTAG	XP_011514488.1:n.2692+282_2692+284delinsTAG
XM_017012195.1:c.2542+282_2543-282delinsTAG	XP_016867684.1:n.2542+282_2543-282delinsTAG
XM_017012196.1:c.2515+282_2516-282delinsTAG	XP_016867685.1:n.2515+282_2516-282delinsTAG
NM_000238.4:c.2692+282_2693-282delinsTAG MANE Select	NP_000229.1:n.2692+282_2693-282delinsTAG
NM_172057.3:c.1672+282_1673-282delinsTAG	NP_742054.1:n.1672+282_1673-282delinsTAG