Canonical Allele Identifier: CA2778425642

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955652_150955658del , CM000669.2:g.150955652_150955658del	GRCh38
NC_000007.13:g.150652740_150652746del , CM000669.1:g.150652740_150652746del	GRCh37
NC_000007.12:g.150283673_150283679del	NCBI36
NG_008916.1:g.27270_27276del , LRG_288:g.27270_27276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.165_171del
ENST00000684241.1:n.1961+1634_1961+1640del
ENST00000262186.10:c.1128+1634_1128+1640del MANE Select	ENSP00000262186.5:n.1128+1634_1128+1640del
ENST00000330883.9:c.-154_-148del	ENSP00000328531.4:n.-154_-148del
ENST00000262186.9:c.1128+1634_1128+1640del	ENSP00000262186.5:n.1128+1634_1128+1640del
ENST00000330883.8:c.-154_-148del	ENSP00000328531.4:n.-154_-148del
ENST00000430723.4:c.780+1634_780+1640del	ENSP00000387657.4:n.780+1634_780+1640del
ENST00000461280.1:n.154_160del
ENST00000473610.5:n.172_178del
ENST00000532957.5:n.1351+1634_1351+1640del
NM_000238.3:c.1128+1634_1128+1640del , LRG_288t1:c.1128+1634_1128+1640del	NP_000229.1:n.1128+1634_1128+1640del
NM_001204798.1:c.-154_-148del	NP_001191727.1:n.-154_-148del
NM_172056.2:c.1128+1634_1128+1640del , LRG_288t2:c.1128+1634_1128+1640del	NP_742053.1:n.1128+1634_1128+1640del
NM_172057.2:c.-154_-148del , LRG_288t3:c.-154_-148del	NP_742054.1:n.-154_-148del
XM_011516185.1:c.828+1634_828+1640del	XP_011514487.1:n.828+1634_828+1640del
XM_011516186.1:c.1128+1634_1128+1640del	XP_011514488.1:n.1128+1634_1128+1640del
XM_011516185.2:c.828+1634_828+1640del	XP_011514487.1:n.828+1634_828+1640del
XM_011516186.3:c.1128+1634_1128+1640del	XP_011514488.1:n.1128+1634_1128+1640del
XM_017012195.1:c.978+1634_978+1640del	XP_016867684.1:n.978+1634_978+1640del
XM_017012196.1:c.951+1634_951+1640del	XP_016867685.1:n.951+1634_951+1640del
NM_000238.4:c.1128+1634_1128+1640del MANE Select	NP_000229.1:n.1128+1634_1128+1640del
NM_001204798.2:c.-154_-148del	NP_001191727.1:n.-154_-148del
NM_172057.3:c.-154_-148del	NP_742054.1:n.-154_-148del