Canonical Allele Identifier: CA1752419762

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959541_150959543delinsCCT , CM000669.2:g.150959541_150959543delinsCCT	GRCh38
NC_000007.13:g.150656629_150656631delinsCCT , CM000669.1:g.150656629_150656631delinsCCT	GRCh37
NC_000007.12:g.150287562_150287564delinsCCT	NCBI36
NG_008916.1:g.23384_23386delinsAGG , LRG_288:g.23384_23386delinsAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1305+29_1305+31delinsAGG
ENST00000262186.10:c.472+29_472+31delinsAGG MANE Select	ENSP00000262186.5:n.472+29_472+31delinsAG...
ENST00000262186.9:c.472+29_472+31delinsAGG	ENSP00000262186.5:n.472+29_472+31delinsAG...
ENST00000430723.4:c.234+90_234+92delinsAGG	ENSP00000387657.4:n.234+90_234+92delinsAG...
ENST00000532957.5:n.695+29_695+31delinsAGG
NM_000238.3:c.472+29_472+31delinsAGG , LRG_288t1:c.472+29_472+31delinsAGG	NP_000229.1:n.472+29_472+31delinsAGG
NM_172056.2:c.472+29_472+31delinsAGG , LRG_288t2:c.472+29_472+31delinsAGG	NP_742053.1:n.472+29_472+31delinsAGG
XM_011516185.1:c.172+29_172+31delinsAGG	XP_011514487.1:n.172+29_172+31delinsAGG
XM_011516186.1:c.472+29_472+31delinsAGG	XP_011514488.1:n.472+29_472+31delinsAGG
XM_011516185.2:c.172+29_172+31delinsAGG	XP_011514487.1:n.172+29_172+31delinsAGG
XM_011516186.3:c.472+29_472+31delinsAGG	XP_011514488.1:n.472+29_472+31delinsAGG
XM_017012195.1:c.322+29_322+31delinsAGG	XP_016867684.1:n.322+29_322+31delinsAGG
XM_017012196.1:c.295+29_295+31delinsAGG	XP_016867685.1:n.295+29_295+31delinsAGG
NM_000238.4:c.472+29_472+31delinsAGG MANE Select	NP_000229.1:n.472+29_472+31delinsAGG