Canonical Allele Identifier: CA032057

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950152_150950153del , CM000669.2:g.150950152_150950153del	GRCh38
NC_000007.13:g.150647240_150647241del , CM000669.1:g.150647240_150647241del	GRCh37
NC_000007.12:g.150278173_150278174del	NCBI36
NG_008916.1:g.32775_32776del , LRG_288:g.32775_32776del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1712_1713del
ENST00000684241.1:n.3231+16_3231+17del
ENST00000262186.10:c.2398+16_2398+17del MANE Select	ENSP00000262186.5:n.2398+16_2398+17del
ENST00000330883.9:c.1378+16_1378+17del	ENSP00000328531.4:n.1378+16_1378+17del
ENST00000262186.9:c.2398+16_2398+17del	ENSP00000262186.5:n.2398+16_2398+17del
ENST00000330883.8:c.1378+16_1378+17del	ENSP00000328531.4:n.1378+16_1378+17del
ENST00000430723.4:c.2066_2067del	ENSP00000387657.4:p.Ala689GlyfsTer?
ENST00000461280.1:n.1701_1702del
ENST00000473610.5:n.2046_2047del
ENST00000532957.5:n.2637_2638del
NM_000238.3:c.2398+16_2398+17del , LRG_288t1:c.2398+16_2398+17del	NP_000229.1:n.2398+16_2398+17del
NM_001204798.1:c.1394_1395del	NP_001191727.1:p.Ala465GlyfsTer?
NM_172056.2:c.2414_2415del , LRG_288t2:c.2414_2415del	NP_742053.1:p.Ala805GlyfsTer?
NM_172057.2:c.1378+16_1378+17del , LRG_288t3:c.1378+16_1378+17del	NP_742054.1:n.1378+16_1378+17del
XM_011516185.1:c.2098+16_2098+17del	XP_011514487.1:n.2098+16_2098+17del
XM_011516186.1:c.2398+16_2398+17del	XP_011514488.1:n.2398+16_2398+17del
XM_011516185.2:c.2098+16_2098+17del	XP_011514487.1:n.2098+16_2098+17del
XM_011516186.3:c.2398+16_2398+17del	XP_011514488.1:n.2398+16_2398+17del
XM_017012195.1:c.2248+16_2248+17del	XP_016867684.1:n.2248+16_2248+17del
XM_017012196.1:c.2221+16_2221+17del	XP_016867685.1:n.2221+16_2221+17del
NM_000238.4:c.2398+16_2398+17del MANE Select	NP_000229.1:n.2398+16_2398+17del
NM_001204798.2:c.1394_1395del	NP_001191727.1:p.Ala465GlyfsTer?
NM_172057.3:c.1378+16_1378+17del	NP_742054.1:n.1378+16_1378+17del