Canonical Allele Identifier: CA1752429623

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947581_150947592delinsCTCGCCCGCCCG , CM000669.2:g.150947581_150947592delinsCTCGCCCGCCCG	GRCh38
NC_000007.13:g.150644669_150644680delinsCTCGCCCGCCCG , CM000669.1:g.150644669_150644680delinsCTCGCCCGCCCG	GRCh37
NC_000007.12:g.150275602_150275613delinsCTCGCCCGCCCG	NCBI36
NG_008916.1:g.35335_35346delinsCGGGCGGGCGAG , LRG_288:g.35335_35346delinsCGGGCGGGCGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3798+14_3798+25delinsCGGGCGGGCGAG
ENST00000262186.10:c.2965+14_2965+25delinsCGGGCGGGCGAG MANE Select	ENSP00000262186.5:n.2965+14_2965+25delinsCGGGCGGGCGAG
ENST00000330883.9:c.1945+14_1945+25delinsCGGGCGGGCGAG	ENSP00000328531.4:n.1945+14_1945+25delinsCGGGCGGGCGAG
ENST00000262186.9:c.2965+14_2965+25delinsCGGGCGGGCGAG	ENSP00000262186.5:n.2965+14_2965+25delinsCGGGCGGGCGAG
ENST00000330883.8:c.1945+14_1945+25delinsCGGGCGGGCGAG	ENSP00000328531.4:n.1945+14_1945+25delinsCGGGCGGGCGAG
NM_000238.3:c.2965+14_2965+25delinsCGGGCGGGCGAG , LRG_288t1:c.2965+14_2965+25delinsCGGGCGGGCGAG	NP_000229.1:n.2965+14_2965+25delinsCGGGCGGGCGAG
NM_172057.2:c.1945+14_1945+25delinsCGGGCGGGCGAG , LRG_288t3:c.1945+14_1945+25delinsCGGGCGGGCGAG	NP_742054.1:n.1945+14_1945+25delinsCGGGCGGGCGAG
XM_011516185.1:c.2665+14_2665+25delinsCGGGCGGGCGAG	XP_011514487.1:n.2665+14_2665+25delinsCGGGCGGGCGAG
XM_011516186.1:c.*45+14_*45+25delinsCGGGCGGGCGAG	XP_011514488.1:n.*45+14_*45+25delinsCGGGCGGGCGAG
XM_011516185.2:c.2665+14_2665+25delinsCGGGCGGGCGAG	XP_011514487.1:n.2665+14_2665+25delinsCGGGCGGGCGAG
XM_011516186.3:c.*45+14_*45+25delinsCGGGCGGGCGAG	XP_011514488.1:n.*45+14_*45+25delinsCGGGCGGGCGAG
XM_017012195.1:c.2815+14_2815+25delinsCGGGCGGGCGAG	XP_016867684.1:n.2815+14_2815+25delinsCGGGCGGGCGAG
XM_017012196.1:c.2788+14_2788+25delinsCGGGCGGGCGAG	XP_016867685.1:n.2788+14_2788+25delinsCGGGCGGGCGAG
NM_000238.4:c.2965+14_2965+25delinsCGGGCGGGCGAG MANE Select	NP_000229.1:n.2965+14_2965+25delinsCGGGCGGGCGAG
NM_172057.3:c.1945+14_1945+25delinsCGGGCGGGCGAG	NP_742054.1:n.1945+14_1945+25delinsCGGGCGGGCGAG