Canonical Allele Identifier: CA1752442197

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150975188_150975192delinsCCCCG , CM000669.2:g.150975188_150975192delinsCCCCG	GRCh38
NC_000007.13:g.150672276_150672280delinsCCCCG , CM000669.1:g.150672276_150672280delinsCCCCG	GRCh37
NC_000007.12:g.150303209_150303213delinsCCCCG	NCBI36
NG_008916.1:g.7735_7739delinsCGGGG , LRG_288:g.7735_7739delinsCGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.77-251_77-247delinsCGGGG MANE Select	ENSP00000262186.5:n.77-251_77-247delinsCGGGG
ENST00000262186.9:c.77-251_77-247delinsCGGGG	ENSP00000262186.5:n.77-251_77-247delinsCGGGG
ENST00000430723.4:c.-101-251_-101-247delinsCGGGG	ENSP00000387657.4:n.-101-251_-101-247delinsCGGGG
ENST00000532957.5:n.300-251_300-247delinsCGGGG
NM_000238.3:c.77-251_77-247delinsCGGGG , LRG_288t1:c.77-251_77-247delinsCGGGG	NP_000229.1:n.77-251_77-247delinsCGGGG
NM_172056.2:c.77-251_77-247delinsCGGGG , LRG_288t2:c.77-251_77-247delinsCGGGG	NP_742053.1:n.77-251_77-247delinsCGGGG
XM_011516186.1:c.77-251_77-247delinsCGGGG	XP_011514488.1:n.77-251_77-247delinsCGGGG
XM_011516186.3:c.77-251_77-247delinsCGGGG	XP_011514488.1:n.77-251_77-247delinsCGGGG
NM_000238.4:c.77-251_77-247delinsCGGGG MANE Select	NP_000229.1:n.77-251_77-247delinsCGGGG