Canonical Allele Identifier: CA1752431068

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948399_150948402delinsTCAC , CM000669.2:g.150948399_150948402delinsTCAC	GRCh38
NC_000007.13:g.150645487_150645490delinsTCAC , CM000669.1:g.150645487_150645490delinsTCAC	GRCh37
NC_000007.12:g.150276420_150276423delinsTCAC	NCBI36
NG_008916.1:g.34525_34528delinsGTGA , LRG_288:g.34525_34528delinsGTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+42_3525+45delinsGTGA
ENST00000262186.10:c.2692+42_2692+45delinsGTGA MANE Select	ENSP00000262186.5:n.2692+42_2692+45delinsGTGA
ENST00000330883.9:c.1672+42_1672+45delinsGTGA	ENSP00000328531.4:n.1672+42_1672+45delinsGTGA
ENST00000262186.9:c.2692+42_2692+45delinsGTGA	ENSP00000262186.5:n.2692+42_2692+45delinsGTGA
ENST00000330883.8:c.1672+42_1672+45delinsGTGA	ENSP00000328531.4:n.1672+42_1672+45delinsGTGA
NM_000238.3:c.2692+42_2692+45delinsGTGA , LRG_288t1:c.2692+42_2692+45delinsGTGA	NP_000229.1:n.2692+42_2692+45delinsGTGA
NM_172057.2:c.1672+42_1672+45delinsGTGA , LRG_288t3:c.1672+42_1672+45delinsGTGA	NP_742054.1:n.1672+42_1672+45delinsGTGA
XM_011516185.1:c.2392+42_2392+45delinsGTGA	XP_011514487.1:n.2392+42_2392+45delinsGTGA
XM_011516186.1:c.2692+42_2692+45delinsGTGA	XP_011514488.1:n.2692+42_2692+45delinsGTGA
XM_011516185.2:c.2392+42_2392+45delinsGTGA	XP_011514487.1:n.2392+42_2392+45delinsGTGA
XM_011516186.3:c.2692+42_2692+45delinsGTGA	XP_011514488.1:n.2692+42_2692+45delinsGTGA
XM_017012195.1:c.2542+42_2542+45delinsGTGA	XP_016867684.1:n.2542+42_2542+45delinsGTGA
XM_017012196.1:c.2515+42_2515+45delinsGTGA	XP_016867685.1:n.2515+42_2515+45delinsGTGA
NM_000238.4:c.2692+42_2692+45delinsGTGA MANE Select	NP_000229.1:n.2692+42_2692+45delinsGTGA
NM_172057.3:c.1672+42_1672+45delinsGTGA	NP_742054.1:n.1672+42_1672+45delinsGTGA