Canonical Allele Identifier: CA2747590727
Gene: KCNH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.210919952_210919963del , CM000663.2:g.210919952_210919963del GRCh38
NC_000001.10:g.211093294_211093305del , CM000663.1:g.211093294_211093305del GRCh37
NC_000001.9:g.209159917_209159928del NCBI36
NG_029777.1:g.219153_219164del
NG_029777.2:g.219153_219164del

Transcript Alleles

HGVS Amino-acid Change
ENST00000271751.10:c.1139_1150del MANE Select ENSP00000271751.4:p.Val380_Cys384delinsGly
ENST00000367007.5:c.1058_1069del ENSP00000355974.5:p.Val353_Cys357delinsGly
ENST00000638357.1:c.472_483del
ENST00000638498.1:c.1139_1150del ENSP00000490983.1:p.Val380_Cys384delinsGly
ENST00000638960.1:c.1058_1069del ENSP00000492302.1:p.Val353_Cys357delinsGly
ENST00000638983.1:c.952-58769_952-58758del ENSP00000492641.1:n.952-58769_952-58758del
ENST00000639385.1:n.507_518del
ENST00000639602.1:c.929_940del ENSP00000492303.1:p.Val310_Cys314delinsGly
ENST00000639754.1:n.1342_1353del
ENST00000639952.1:c.1058_1069del ENSP00000492697.1:p.Val353_Cys357delinsGly
ENST00000640044.1:c.311-115797_311-115786del ENSP00000491434.1:n.311-115797_311-115786del
ENST00000640243.1:c.951+98901_951+98912del ENSP00000492803.1:n.951+98901_951+98912del
ENST00000640522.1:c.1032+98820_1032+98831del ENSP00000491019.1:n.1032+98820_1032+98831del
ENST00000640528.1:c.1058_1069del ENSP00000491725.1:p.Val353_Cys357delinsGly
ENST00000640566.1:c.311-144419_311-144408del ENSP00000491302.1:n.311-144419_311-144408del
ENST00000640710.1:c.1058_1069del ENSP00000492513.1:p.Val353_Cys357delinsGly
ENST00000640890.1:n.1160_1171del
ENST00000271751.8:c.1139_1150del ENSP00000271751.4:p.Val380_Cys384delinsGly
ENST00000367007.4:c.1058_1069del ENSP00000355974.4:p.Val353_Cys357delinsGly
NM_002238.3:c.1058_1069del NP_002229.1:p.Val353_Cys357delinsGly
NM_172362.2:c.1139_1150del NP_758872.1:p.Val380_Cys384delinsGly
XM_011509514.1:c.-38_-27del XP_011507816.1:n.-38_-27del
XM_017001246.1:c.-38_-27del XP_016856735.1:n.-38_-27del
NM_172362.3:c.1139_1150del MANE Select NP_758872.1:p.Val380_Cys384delinsGly
NM_002238.4:c.1058_1069del NP_002229.1:p.Val353_Cys357delinsGly