Canonical Allele Identifier: CA2695208704

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950321_150950331delinsAAA , CM000669.2:g.150950321_150950331delinsAAA	GRCh38
NC_000007.13:g.150647409_150647419delinsAAA , CM000669.1:g.150647409_150647419delinsAAA	GRCh37
NC_000007.12:g.150278342_150278352delinsAAA	NCBI36
NG_008916.1:g.32596_32606delinsTTT , LRG_288:g.32596_32606delinsTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1533_1543delinsTTT
ENST00000684241.1:n.3068_3078delinsTTT
ENST00000262186.10:c.2235_2245delinsTTT MANE Select	ENSP00000262186.5:p.Ala746LeufsTer?
ENST00000330883.9:c.1215_1225delinsTTT	ENSP00000328531.4:p.Ala406LeufsTer?
ENST00000262186.9:c.2235_2245delinsTTT	ENSP00000262186.5:p.Ala746LeufsTer?
ENST00000330883.8:c.1215_1225delinsTTT	ENSP00000328531.4:p.Ala406LeufsTer?
ENST00000430723.4:c.1887_1897delinsTTT	ENSP00000387657.4:p.Ala630LeufsTer?
ENST00000461280.1:n.1522_1532delinsTTT
ENST00000473610.5:n.1867_1877delinsTTT
ENST00000532957.5:n.2458_2468delinsTTT
NM_000238.3:c.2235_2245delinsTTT , LRG_288t1:c.2235_2245delinsTTT	NP_000229.1:p.Ala746LeufsTer?
NM_001204798.1:c.1215_1225delinsTTT	NP_001191727.1:p.Ala406LeufsTer?
NM_172056.2:c.2235_2245delinsTTT , LRG_288t2:c.2235_2245delinsTTT	NP_742053.1:p.Ala746LeufsTer?
NM_172057.2:c.1215_1225delinsTTT , LRG_288t3:c.1215_1225delinsTTT	NP_742054.1:p.Ala406LeufsTer?
XM_011516185.1:c.1935_1945delinsTTT	XP_011514487.1:p.Ala646LeufsTer?
XM_011516186.1:c.2235_2245delinsTTT	XP_011514488.1:p.Ala746LeufsTer?
XM_011516185.2:c.1935_1945delinsTTT	XP_011514487.1:p.Ala646LeufsTer?
XM_011516186.3:c.2235_2245delinsTTT	XP_011514488.1:p.Ala746LeufsTer?
XM_017012195.1:c.2085_2095delinsTTT	XP_016867684.1:p.Ala696LeufsTer?
XM_017012196.1:c.2058_2068delinsTTT	XP_016867685.1:p.Ala687LeufsTer?
NM_000238.4:c.2235_2245delinsTTT MANE Select	NP_000229.1:p.Ala746LeufsTer?
NM_001204798.2:c.1215_1225delinsTTT	NP_001191727.1:p.Ala406LeufsTer?
NM_172057.3:c.1215_1225delinsTTT	NP_742054.1:p.Ala406LeufsTer?