Canonical Allele Identifier: CA1752431649

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948661_150948666delinsACCCTT , CM000669.2:g.150948661_150948666delinsACCCTT	GRCh38
NC_000007.13:g.150645749_150645754delinsACCCTT , CM000669.1:g.150645749_150645754delinsACCCTT	GRCh37
NC_000007.12:g.150276682_150276687delinsACCCTT	NCBI36
NG_008916.1:g.34261_34266delinsAAGGGT , LRG_288:g.34261_34266delinsAAGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3426-123_3426-118delinsAAGGGT
ENST00000262186.10:c.2593-123_2593-118delinsAAGGGT MANE Select	ENSP00000262186.5:n.2593-123_2593-118delinsAAGGGT
ENST00000330883.9:c.1573-123_1573-118delinsAAGGGT	ENSP00000328531.4:n.1573-123_1573-118delinsAAGGGT
ENST00000262186.9:c.2593-123_2593-118delinsAAGGGT	ENSP00000262186.5:n.2593-123_2593-118delinsAAGGGT
ENST00000330883.8:c.1573-123_1573-118delinsAAGGGT	ENSP00000328531.4:n.1573-123_1573-118delinsAAGGGT
NM_000238.3:c.2593-123_2593-118delinsAAGGGT , LRG_288t1:c.2593-123_2593-118delinsAAGGGT	NP_000229.1:n.2593-123_2593-118delinsAAGGGT
NM_172057.2:c.1573-123_1573-118delinsAAGGGT , LRG_288t3:c.1573-123_1573-118delinsAAGGGT	NP_742054.1:n.1573-123_1573-118delinsAAGGGT
XM_011516185.1:c.2293-123_2293-118delinsAAGGGT	XP_011514487.1:n.2293-123_2293-118delinsAAGGGT
XM_011516186.1:c.2593-123_2593-118delinsAAGGGT	XP_011514488.1:n.2593-123_2593-118delinsAAGGGT
XM_011516185.2:c.2293-123_2293-118delinsAAGGGT	XP_011514487.1:n.2293-123_2293-118delinsAAGGGT
XM_011516186.3:c.2593-123_2593-118delinsAAGGGT	XP_011514488.1:n.2593-123_2593-118delinsAAGGGT
XM_017012195.1:c.2443-123_2443-118delinsAAGGGT	XP_016867684.1:n.2443-123_2443-118delinsAAGGGT
XM_017012196.1:c.2416-123_2416-118delinsAAGGGT	XP_016867685.1:n.2416-123_2416-118delinsAAGGGT
NM_000238.4:c.2593-123_2593-118delinsAAGGGT MANE Select	NP_000229.1:n.2593-123_2593-118delinsAAGGGT
NM_172057.3:c.1573-123_1573-118delinsAAGGGT	NP_742054.1:n.1573-123_1573-118delinsAAGGGT