Canonical Allele Identifier: CA1752434054

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950881_150950882delinsCC , CM000669.2:g.150950881_150950882delinsCC	GRCh38
NC_000007.13:g.150647969_150647970delinsCC , CM000669.1:g.150647969_150647970delinsCC	GRCh37
NC_000007.12:g.150278902_150278903delinsCC	NCBI36
NG_008916.1:g.32045_32046delinsGG , LRG_288:g.32045_32046delinsGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1443+39_1443+40delinsGG
ENST00000683359.1:n.308_309delinsGG
ENST00000684241.1:n.2978+39_2978+40delinsGG
ENST00000262186.10:c.2145+39_2145+40delinsGG MANE Select	ENSP00000262186.5:n.2145+39_2145+40delinsGG
ENST00000330883.9:c.1125+39_1125+40delinsGG	ENSP00000328531.4:n.1125+39_1125+40delinsGG
ENST00000262186.9:c.2145+39_2145+40delinsGG	ENSP00000262186.5:n.2145+39_2145+40delinsGG
ENST00000330883.8:c.1125+39_1125+40delinsGG	ENSP00000328531.4:n.1125+39_1125+40delinsGG
ENST00000430723.4:c.1797+39_1797+40delinsGG	ENSP00000387657.4:n.1797+39_1797+40delinsGG
ENST00000461280.1:n.1432+39_1432+40delinsGG
ENST00000473610.5:n.1777+39_1777+40delinsGG
ENST00000532957.5:n.2368+39_2368+40delinsGG
NM_000238.3:c.2145+39_2145+40delinsGG , LRG_288t1:c.2145+39_2145+40delinsGG	NP_000229.1:n.2145+39_2145+40delinsGG
NM_001204798.1:c.1125+39_1125+40delinsGG	NP_001191727.1:n.1125+39_1125+40delinsGG
NM_172056.2:c.2145+39_2145+40delinsGG , LRG_288t2:c.2145+39_2145+40delinsGG	NP_742053.1:n.2145+39_2145+40delinsGG
NM_172057.2:c.1125+39_1125+40delinsGG , LRG_288t3:c.1125+39_1125+40delinsGG	NP_742054.1:n.1125+39_1125+40delinsGG
XM_011516185.1:c.1845+39_1845+40delinsGG	XP_011514487.1:n.1845+39_1845+40delinsGG
XM_011516186.1:c.2145+39_2145+40delinsGG	XP_011514488.1:n.2145+39_2145+40delinsGG
XM_011516185.2:c.1845+39_1845+40delinsGG	XP_011514487.1:n.1845+39_1845+40delinsGG
XM_011516186.3:c.2145+39_2145+40delinsGG	XP_011514488.1:n.2145+39_2145+40delinsGG
XM_017012195.1:c.1995+39_1995+40delinsGG	XP_016867684.1:n.1995+39_1995+40delinsGG
XM_017012196.1:c.1968+39_1968+40delinsGG	XP_016867685.1:n.1968+39_1968+40delinsGG
NM_000238.4:c.2145+39_2145+40delinsGG MANE Select	NP_000229.1:n.2145+39_2145+40delinsGG
NM_001204798.2:c.1125+39_1125+40delinsGG	NP_001191727.1:n.1125+39_1125+40delinsGG
NM_172057.3:c.1125+39_1125+40delinsGG	NP_742054.1:n.1125+39_1125+40delinsGG