Canonical Allele Identifier: CA1752429604

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947564_150947565delinsGC , CM000669.2:g.150947564_150947565delinsGC	GRCh38
NC_000007.13:g.150644652_150644653delinsGC , CM000669.1:g.150644652_150644653delinsGC	GRCh37
NC_000007.12:g.150275585_150275586delinsGC	NCBI36
NG_008916.1:g.35362_35363delinsGC , LRG_288:g.35362_35363delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3798+41_3798+42delinsGC
ENST00000262186.10:c.2965+41_2965+42delinsGC MANE Select	ENSP00000262186.5:n.2965+41_2965+42delinsGC
ENST00000330883.9:c.1945+41_1945+42delinsGC	ENSP00000328531.4:n.1945+41_1945+42delinsGC
ENST00000262186.9:c.2965+41_2965+42delinsGC	ENSP00000262186.5:n.2965+41_2965+42delinsGC
ENST00000330883.8:c.1945+41_1945+42delinsGC	ENSP00000328531.4:n.1945+41_1945+42delinsGC
NM_000238.3:c.2965+41_2965+42delinsGC , LRG_288t1:c.2965+41_2965+42delinsGC	NP_000229.1:n.2965+41_2965+42delinsGC
NM_172057.2:c.1945+41_1945+42delinsGC , LRG_288t3:c.1945+41_1945+42delinsGC	NP_742054.1:n.1945+41_1945+42delinsGC
XM_011516185.1:c.2665+41_2665+42delinsGC	XP_011514487.1:n.2665+41_2665+42delinsGC
XM_011516186.1:c.*45+41_*45+42delinsGC	XP_011514488.1:n.*45+41_*45+42delinsGC
XM_011516185.2:c.2665+41_2665+42delinsGC	XP_011514487.1:n.2665+41_2665+42delinsGC
XM_011516186.3:c.*45+41_*45+42delinsGC	XP_011514488.1:n.*45+41_*45+42delinsGC
XM_017012195.1:c.2815+41_2815+42delinsGC	XP_016867684.1:n.2815+41_2815+42delinsGC
XM_017012196.1:c.2788+41_2788+42delinsGC	XP_016867685.1:n.2788+41_2788+42delinsGC
NM_000238.4:c.2965+41_2965+42delinsGC MANE Select	NP_000229.1:n.2965+41_2965+42delinsGC
NM_172057.3:c.1945+41_1945+42delinsGC	NP_742054.1:n.1945+41_1945+42delinsGC