Canonical Allele Identifier: CA2579062683

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955719_150955721del , CM000669.2:g.150955719_150955721del	GRCh38
NC_000007.13:g.150652807_150652809del , CM000669.1:g.150652807_150652809del	GRCh37
NC_000007.12:g.150283740_150283742del	NCBI36
NG_008916.1:g.27206_27208del , LRG_288:g.27206_27208del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.101_103del
ENST00000684241.1:n.1961+1570_1961+1572del
ENST00000262186.10:c.1128+1570_1128+1572del MANE Select	ENSP00000262186.5:n.1128+1570_1128+1572del
ENST00000330883.9:c.-218_-216del	ENSP00000328531.4:n.-218_-216del
ENST00000262186.9:c.1128+1570_1128+1572del	ENSP00000262186.5:n.1128+1570_1128+1572del
ENST00000330883.8:c.-218_-216del	ENSP00000328531.4:n.-218_-216del
ENST00000430723.4:c.780+1570_780+1572del	ENSP00000387657.4:n.780+1570_780+1572del
ENST00000461280.1:n.90_92del
ENST00000473610.5:n.108_110del
ENST00000532957.5:n.1351+1570_1351+1572del
NM_000238.3:c.1128+1570_1128+1572del , LRG_288t1:c.1128+1570_1128+1572del	NP_000229.1:n.1128+1570_1128+1572del
NM_001204798.1:c.-218_-216del	NP_001191727.1:n.-218_-216del
NM_172056.2:c.1128+1570_1128+1572del , LRG_288t2:c.1128+1570_1128+1572del	NP_742053.1:n.1128+1570_1128+1572del
NM_172057.2:c.-218_-216del , LRG_288t3:c.-218_-216del	NP_742054.1:n.-218_-216del
XM_011516185.1:c.828+1570_828+1572del	XP_011514487.1:n.828+1570_828+1572del
XM_011516186.1:c.1128+1570_1128+1572del	XP_011514488.1:n.1128+1570_1128+1572del
XM_011516185.2:c.828+1570_828+1572del	XP_011514487.1:n.828+1570_828+1572del
XM_011516186.3:c.1128+1570_1128+1572del	XP_011514488.1:n.1128+1570_1128+1572del
XM_017012195.1:c.978+1570_978+1572del	XP_016867684.1:n.978+1570_978+1572del
XM_017012196.1:c.951+1570_951+1572del	XP_016867685.1:n.951+1570_951+1572del
NM_000238.4:c.1128+1570_1128+1572del MANE Select	NP_000229.1:n.1128+1570_1128+1572del
NM_001204798.2:c.-218_-216del	NP_001191727.1:n.-218_-216del
NM_172057.3:c.-218_-216del	NP_742054.1:n.-218_-216del