Canonical Allele Identifier: CA1752429566

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947547_150947552delinsGTAGAC , CM000669.2:g.150947547_150947552delinsGTAGAC	GRCh38
NC_000007.13:g.150644635_150644640delinsGTAGAC , CM000669.1:g.150644635_150644640delinsGTAGAC	GRCh37
NC_000007.12:g.150275568_150275573delinsGTAGAC	NCBI36
NG_008916.1:g.35375_35380delinsGTCTAC , LRG_288:g.35375_35380delinsGTCTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3799-38_3799-33delinsGTCTAC
ENST00000262186.10:c.2966-38_2966-33delinsGTCTAC MANE Select	ENSP00000262186.5:n.2966-38_2966-33delinsGTCTAC
ENST00000330883.9:c.1946-38_1946-33delinsGTCTAC	ENSP00000328531.4:n.1946-38_1946-33delinsGTCTAC
ENST00000262186.9:c.2966-38_2966-33delinsGTCTAC	ENSP00000262186.5:n.2966-38_2966-33delinsGTCTAC
ENST00000330883.8:c.1946-38_1946-33delinsGTCTAC	ENSP00000328531.4:n.1946-38_1946-33delinsGTCTAC
NM_000238.3:c.2966-38_2966-33delinsGTCTAC , LRG_288t1:c.2966-38_2966-33delinsGTCTAC	NP_000229.1:n.2966-38_2966-33delinsGTCTAC
NM_172057.2:c.1946-38_1946-33delinsGTCTAC , LRG_288t3:c.1946-38_1946-33delinsGTCTAC	NP_742054.1:n.1946-38_1946-33delinsGTCTAC
XM_011516185.1:c.2666-38_2666-33delinsGTCTAC	XP_011514487.1:n.2666-38_2666-33delinsGTCTAC
XM_011516186.1:c.*46-38_*46-33delinsGTCTAC	XP_011514488.1:n.*46-38_*46-33delinsGTCTAC
XM_011516185.2:c.2666-38_2666-33delinsGTCTAC	XP_011514487.1:n.2666-38_2666-33delinsGTCTAC
XM_011516186.3:c.*46-38_*46-33delinsGTCTAC	XP_011514488.1:n.*46-38_*46-33delinsGTCTAC
XM_017012195.1:c.2816-38_2816-33delinsGTCTAC	XP_016867684.1:n.2816-38_2816-33delinsGTCTAC
XM_017012196.1:c.2789-38_2789-33delinsGTCTAC	XP_016867685.1:n.2789-38_2789-33delinsGTCTAC
NM_000238.4:c.2966-38_2966-33delinsGTCTAC MANE Select	NP_000229.1:n.2966-38_2966-33delinsGTCTAC
NM_172057.3:c.1946-38_1946-33delinsGTCTAC	NP_742054.1:n.1946-38_1946-33delinsGTCTAC