Canonical Allele Identifier: CA2484879676

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211019054_211019064delinsTCAACAACCAG , CM000663.2:g.211019054_211019064delinsTCAACAACCAG	GRCh38
NC_000001.10:g.211192396_211192406delinsTCAACAACCAG , CM000663.1:g.211192396_211192406delinsTCAACAACCAG	GRCh37
NC_000001.9:g.209259019_209259029delinsTCAACAACCAG	NCBI36
NG_029777.1:g.120052_120062delinsCTGGTTGTTGA
NG_029777.2:g.120052_120062delinsCTGGTTGTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.751_761delinsCTGGTTGTTGA MANE Select	ENSP00000271751.4:p.Leu251=
ENST00000367007.5:c.751_761delinsCTGGTTGTTGA	ENSP00000355974.5:p.Leu251=
ENST00000638357.1:c.165_175delinsCTGGTTGTTGA
ENST00000638498.1:c.751_761delinsCTGGTTGTTGA	ENSP00000490983.1:p.Leu251=
ENST00000638960.1:c.751_761delinsCTGGTTGTTGA	ENSP00000492302.1:p.Leu251=
ENST00000638983.1:c.751_761delinsCTGGTTGTTGA	ENSP00000492641.1:p.Leu251=
ENST00000639385.1:n.127_137delinsCTGGTTGTTGA
ENST00000639602.1:c.622_632delinsCTGGTTGTTGA	ENSP00000492303.1:p.Leu208=
ENST00000639754.1:n.954_964delinsCTGGTTGTTGA
ENST00000639952.1:c.751_761delinsCTGGTTGTTGA	ENSP00000492697.1:p.Leu251=
ENST00000640044.1:c.310+84432_310+84442delinsCTGGTTGTTGA	ENSP00000491434.1:n.310+84432_310+84442delinsCTGGTTGTTGA
ENST00000640243.1:c.751_761delinsCTGGTTGTTGA	ENSP00000492803.1:p.Leu251=
ENST00000640522.1:c.751_761delinsCTGGTTGTTGA	ENSP00000491019.1:p.Leu251=
ENST00000640528.1:c.751_761delinsCTGGTTGTTGA	ENSP00000491725.1:p.Leu251=
ENST00000640566.1:c.310+84432_310+84442delinsCTGGTTGTTGA	ENSP00000491302.1:n.310+84432_310+84442delinsCTGGTTGTTGA
ENST00000640710.1:c.751_761delinsCTGGTTGTTGA	ENSP00000492513.1:p.Leu251=
ENST00000640890.1:n.853_863delinsCTGGTTGTTGA
ENST00000271751.8:c.751_761delinsCTGGTTGTTGA	ENSP00000271751.4:p.Leu251=
ENST00000367007.4:c.751_761delinsCTGGTTGTTGA	ENSP00000355974.4:p.Leu251=
NM_002238.3:c.751_761delinsCTGGTTGTTGA	NP_002229.1:p.Leu251=
NM_172362.2:c.751_761delinsCTGGTTGTTGA	NP_758872.1:p.Leu251=
NM_172362.3:c.751_761delinsCTGGTTGTTGA MANE Select	NP_758872.1:p.Leu251=
NM_002238.4:c.751_761delinsCTGGTTGTTGA	NP_002229.1:p.Leu251=