Canonical Allele Identifier: CA2695208637

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958237_150958249del , CM000669.2:g.150958237_150958249del	GRCh38
NC_000007.13:g.150655325_150655337del , CM000669.1:g.150655325_150655337del	GRCh37
NC_000007.12:g.150286258_150286270del	NCBI36
NG_008916.1:g.24682_24694del , LRG_288:g.24682_24694del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1563_1575del
ENST00000262186.10:c.730_742del MANE Select	ENSP00000262186.5:p.Ala244SerfsTer?
ENST00000262186.9:c.730_742del	ENSP00000262186.5:p.Ala244SerfsTer?
ENST00000430723.4:c.382_394del	ENSP00000387657.4:p.Ala128SerfsTer?
ENST00000532957.5:n.953_965del
NM_000238.3:c.730_742del , LRG_288t1:c.730_742del	NP_000229.1:p.Ala244SerfsTer?
NM_172056.2:c.730_742del , LRG_288t2:c.730_742del	NP_742053.1:p.Ala244SerfsTer?
XM_011516185.1:c.430_442del	XP_011514487.1:p.Ala144SerfsTer?
XM_011516186.1:c.730_742del	XP_011514488.1:p.Ala244SerfsTer?
XM_011516185.2:c.430_442del	XP_011514487.1:p.Ala144SerfsTer?
XM_011516186.3:c.730_742del	XP_011514488.1:p.Ala244SerfsTer?
XM_017012195.1:c.580_592del	XP_016867684.1:p.Ala194SerfsTer?
XM_017012196.1:c.553_565del	XP_016867685.1:p.Ala185SerfsTer?
NM_000238.4:c.730_742del MANE Select	NP_000229.1:p.Ala244SerfsTer?