Canonical Allele Identifier: CA1752431218

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948439_150948442delinsCTCA , CM000669.2:g.150948439_150948442delinsCTCA	GRCh38
NC_000007.13:g.150645527_150645530delinsCTCA , CM000669.1:g.150645527_150645530delinsCTCA	GRCh37
NC_000007.12:g.150276460_150276463delinsCTCA	NCBI36
NG_008916.1:g.34485_34488delinsTGAG , LRG_288:g.34485_34488delinsTGAG

Transcript Alleles

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