Canonical Allele Identifier: CA1752431145

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948421_150948423delinsCTT , CM000669.2:g.150948421_150948423delinsCTT	GRCh38
NC_000007.13:g.150645509_150645511delinsCTT , CM000669.1:g.150645509_150645511delinsCTT	GRCh37
NC_000007.12:g.150276442_150276444delinsCTT	NCBI36
NG_008916.1:g.34504_34506delinsAAG , LRG_288:g.34504_34506delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+21_3525+23delinsAAG
ENST00000262186.10:c.2692+21_2692+23delinsAAG MANE Select	ENSP00000262186.5:n.2692+21_2692+23delinsAAG
ENST00000330883.9:c.1672+21_1672+23delinsAAG	ENSP00000328531.4:n.1672+21_1672+23delinsAAG
ENST00000262186.9:c.2692+21_2692+23delinsAAG	ENSP00000262186.5:n.2692+21_2692+23delinsAAG
ENST00000330883.8:c.1672+21_1672+23delinsAAG	ENSP00000328531.4:n.1672+21_1672+23delinsAAG
NM_000238.3:c.2692+21_2692+23delinsAAG , LRG_288t1:c.2692+21_2692+23delinsAAG	NP_000229.1:n.2692+21_2692+23delinsAAG
NM_172057.2:c.1672+21_1672+23delinsAAG , LRG_288t3:c.1672+21_1672+23delinsAAG	NP_742054.1:n.1672+21_1672+23delinsAAG
XM_011516185.1:c.2392+21_2392+23delinsAAG	XP_011514487.1:n.2392+21_2392+23delinsAAG
XM_011516186.1:c.2692+21_2692+23delinsAAG	XP_011514488.1:n.2692+21_2692+23delinsAAG
XM_011516185.2:c.2392+21_2392+23delinsAAG	XP_011514487.1:n.2392+21_2392+23delinsAAG
XM_011516186.3:c.2692+21_2692+23delinsAAG	XP_011514488.1:n.2692+21_2692+23delinsAAG
XM_017012195.1:c.2542+21_2542+23delinsAAG	XP_016867684.1:n.2542+21_2542+23delinsAAG
XM_017012196.1:c.2515+21_2515+23delinsAAG	XP_016867685.1:n.2515+21_2515+23delinsAAG
NM_000238.4:c.2692+21_2692+23delinsAAG MANE Select	NP_000229.1:n.2692+21_2692+23delinsAAG
NM_172057.3:c.1672+21_1672+23delinsAAG	NP_742054.1:n.1672+21_1672+23delinsAAG