Canonical Allele Identifier: CA2484836187

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210920007_210920014delinsGGCCACTC , CM000663.2:g.210920007_210920014delinsGGCCACTC	GRCh38
NC_000001.10:g.211093349_211093356delinsGGCCACTC , CM000663.1:g.211093349_211093356delinsGGCCACTC	GRCh37
NC_000001.9:g.209159972_209159979delinsGGCCACTC	NCBI36
NG_029777.1:g.219102_219109delinsGAGTGGCC
NG_029777.2:g.219102_219109delinsGAGTGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1088_1095delinsGAGTGGCC MANE Select	ENSP00000271751.4:p.Arg363=
ENST00000367007.5:c.1007_1014delinsGAGTGGCC	ENSP00000355974.5:p.Arg336=
ENST00000638357.1:c.421_428delinsGAGTGGCC
ENST00000638498.1:c.1088_1095delinsGAGTGGCC	ENSP00000490983.1:p.Arg363=
ENST00000638960.1:c.1007_1014delinsGAGTGGCC	ENSP00000492302.1:p.Arg336=
ENST00000638983.1:c.952-58820_952-58813delinsGAGTGGCC	ENSP00000492641.1:n.952-58820_952-58813delinsGAGTGGCC
ENST00000639385.1:n.456_463delinsGAGTGGCC
ENST00000639602.1:c.878_885delinsGAGTGGCC	ENSP00000492303.1:p.Arg293=
ENST00000639754.1:n.1291_1298delinsGAGTGGCC
ENST00000639952.1:c.1007_1014delinsGAGTGGCC	ENSP00000492697.1:p.Arg336=
ENST00000640044.1:c.311-115848_311-115841delinsGAGTGGCC	ENSP00000491434.1:n.311-115848_311-115841delinsGAGTGGCC
ENST00000640243.1:c.951+98850_951+98857delinsGAGTGGCC	ENSP00000492803.1:n.951+98850_951+98857delinsGAGTGGCC
ENST00000640522.1:c.1032+98769_1032+98776delinsGAGTGGCC	ENSP00000491019.1:n.1032+98769_1032+98776delinsGAGTGGCC
ENST00000640528.1:c.1007_1014delinsGAGTGGCC	ENSP00000491725.1:p.Arg336=
ENST00000640566.1:c.311-144470_311-144463delinsGAGTGGCC	ENSP00000491302.1:n.311-144470_311-144463delinsGAGTGGCC
ENST00000640710.1:c.1007_1014delinsGAGTGGCC	ENSP00000492513.1:p.Arg336=
ENST00000640890.1:n.1109_1116delinsGAGTGGCC
ENST00000271751.8:c.1088_1095delinsGAGTGGCC	ENSP00000271751.4:p.Arg363=
ENST00000367007.4:c.1007_1014delinsGAGTGGCC	ENSP00000355974.4:p.Arg336=
NM_002238.3:c.1007_1014delinsGAGTGGCC	NP_002229.1:p.Arg336=
NM_172362.2:c.1088_1095delinsGAGTGGCC	NP_758872.1:p.Arg363=
XM_011509514.1:c.-89_-82delinsGAGTGGCC	XP_011507816.1:n.-89_-82delinsGAGTGGCC
XM_017001246.1:c.-89_-82delinsGAGTGGCC	XP_016856735.1:n.-89_-82delinsGAGTGGCC
NM_172362.3:c.1088_1095delinsGAGTGGCC MANE Select	NP_758872.1:p.Arg363=
NM_002238.4:c.1007_1014delinsGAGTGGCC	NP_002229.1:p.Arg336=