Canonical Allele Identifier: CA2747590728

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210919958del , CM000663.2:g.210919958del	GRCh38
NC_000001.10:g.211093300del , CM000663.1:g.211093300del	GRCh37
NC_000001.9:g.209159923del	NCBI36
NG_029777.1:g.219158del
NG_029777.2:g.219158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1144del MANE Select	ENSP00000271751.4:p.Leu382TrpfsTer?
ENST00000367007.5:c.1063del	ENSP00000355974.5:p.Leu355TrpfsTer?
ENST00000638357.1:c.477del
ENST00000638498.1:c.1144del	ENSP00000490983.1:p.Leu382TrpfsTer?
ENST00000638960.1:c.1063del	ENSP00000492302.1:p.Leu355TrpfsTer?
ENST00000638983.1:c.952-58764del	ENSP00000492641.1:n.952-58764del
ENST00000639385.1:n.512del
ENST00000639602.1:c.934del	ENSP00000492303.1:p.Leu312TrpfsTer?
ENST00000639754.1:n.1347del
ENST00000639952.1:c.1063del	ENSP00000492697.1:p.Leu355TrpfsTer?
ENST00000640044.1:c.311-115792del	ENSP00000491434.1:n.311-115792del
ENST00000640243.1:c.951+98906del	ENSP00000492803.1:n.951+98906del
ENST00000640522.1:c.1032+98825del	ENSP00000491019.1:n.1032+98825del
ENST00000640528.1:c.1063del	ENSP00000491725.1:p.Leu355TrpfsTer?
ENST00000640566.1:c.311-144414del	ENSP00000491302.1:n.311-144414del
ENST00000640710.1:c.1063del	ENSP00000492513.1:p.Leu355TrpfsTer?
ENST00000640890.1:n.1165del
ENST00000271751.8:c.1144del	ENSP00000271751.4:p.Leu382TrpfsTer?
ENST00000367007.4:c.1063del	ENSP00000355974.4:p.Leu355TrpfsTer?
NM_002238.3:c.1063del	NP_002229.1:p.Leu355TrpfsTer?
NM_172362.2:c.1144del	NP_758872.1:p.Leu382TrpfsTer?
XM_011509514.1:c.-33del	XP_011507816.1:n.-33del
XM_017001246.1:c.-33del	XP_016856735.1:n.-33del
NM_172362.3:c.1144del MANE Select	NP_758872.1:p.Leu382TrpfsTer?
NM_002238.4:c.1063del	NP_002229.1:p.Leu355TrpfsTer?