Canonical Allele Identifier: CA1752441592

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974943_150974944delinsTA , CM000669.2:g.150974943_150974944delinsTA	GRCh38
NC_000007.13:g.150672031_150672032delinsTA , CM000669.1:g.150672031_150672032delinsTA	GRCh37
NC_000007.12:g.150302964_150302965delinsTA	NCBI36
NG_008916.1:g.7983_7984delinsTA , LRG_288:g.7983_7984delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.77-3_77-2delinsTA MANE Select	ENSP00000262186.5:n.77-3_77-2delinsTA
ENST00000262186.9:c.77-3_77-2delinsTA	ENSP00000262186.5:n.77-3_77-2delinsTA
ENST00000430723.4:c.-101-3_-101-2delinsTA	ENSP00000387657.4:n.-101-3_-101-2delinsTA
ENST00000532957.5:n.300-3_300-2delinsTA
NM_000238.3:c.77-3_77-2delinsTA , LRG_288t1:c.77-3_77-2delinsTA	NP_000229.1:n.77-3_77-2delinsTA
NM_172056.2:c.77-3_77-2delinsTA , LRG_288t2:c.77-3_77-2delinsTA	NP_742053.1:n.77-3_77-2delinsTA
XM_011516186.1:c.77-3_77-2delinsTA	XP_011514488.1:n.77-3_77-2delinsTA
XM_011516186.3:c.77-3_77-2delinsTA	XP_011514488.1:n.77-3_77-2delinsTA
XM_017012196.1:c.-101-3_-101-2delinsTA	XP_016867685.1:n.-101-3_-101-2delinsTA
NM_000238.4:c.77-3_77-2delinsTA MANE Select	NP_000229.1:n.77-3_77-2delinsTA