Canonical Allele Identifier: CA1752442069

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150975130_150975171delinsCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGG , CM000669.2:g.150975130_150975171delinsCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGG	GRCh38
NC_000007.13:g.150672218_150672259delinsCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGG , CM000669.1:g.150672218_150672259delinsCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGG	GRCh37
NC_000007.12:g.150303151_150303192delinsCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGG	NCBI36
NG_008916.1:g.7756_7797delinsCCCGCGGGCCAGGCGGAGGAGGGGGCGCGCCGCGCGGCCCGG , LRG_288:g.7756_7797delinsCCCGCGGGCCAGGCGGAGGAGGGGGCGCGCCGCGCGGCCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.77-230_77-189delinsCCCGCGGGCCAGGCGGAGGAGGGGGCGCGCCGCGCGGCCCGG MANE Select	ENSP00000262186.5:n.77-230_77-189delinsCCCGCGGGCCAGGCGGAGGAGG...
ENST00000262186.9:c.77-230_77-189delinsCCCGCGGGCCAGGCGGAGGAGGGGGCGCGCCGCGCGGCCCGG	ENSP00000262186.5:n.77-230_77-189delinsCCCGCGGGCCAGGCGGAGGAGG...
ENST00000430723.4:c.-101-230_-101-189delinsCCCGCGGGCCAGGCGGAGGAGGGGGCGCGCCGCGCGGCCCGG	ENSP00000387657.4:n.-101-230_-101-189delinsCCCGCGGGCCAGGCGGAG...
ENST00000532957.5:n.300-230_300-189delinsCCCGCGGGCCAGGCGGAGGAGGGGGCGCGCCGCGCGGCCCGG
NM_000238.3:c.77-230_77-189delinsCCCGCGGGCCAGGCGGAGGAGGGGGCGCGCCGCGCGGCCCGG , LRG_288t1:c.77-230_77-189delinsCCCGCGGGCCAGGCGGAGGAGGGGGCGCGCCGCGCGGCCCGG	NP_000229.1:n.77-230_77-189delinsCCCGCGGGCCAGGCGGAGGAGGGGGCGC...
NM_172056.2:c.77-230_77-189delinsCCCGCGGGCCAGGCGGAGGAGGGGGCGCGCCGCGCGGCCCGG , LRG_288t2:c.77-230_77-189delinsCCCGCGGGCCAGGCGGAGGAGGGGGCGCGCCGCGCGGCCCGG	NP_742053.1:n.77-230_77-189delinsCCCGCGGGCCAGGCGGAGGAGGGGGCGC...
XM_011516186.1:c.77-230_77-189delinsCCCGCGGGCCAGGCGGAGGAGGGGGCGCGCCGCGCGGCCCGG	XP_011514488.1:n.77-230_77-189delinsCCCGCGGGCCAGGCGGAGGAGGGGG...
XM_011516186.3:c.77-230_77-189delinsCCCGCGGGCCAGGCGGAGGAGGGGGCGCGCCGCGCGGCCCGG	XP_011514488.1:n.77-230_77-189delinsCCCGCGGGCCAGGCGGAGGAGGGGG...
NM_000238.4:c.77-230_77-189delinsCCCGCGGGCCAGGCGGAGGAGGGGGCGCGCCGCGCGGCCCGG MANE Select	NP_000229.1:n.77-230_77-189delinsCCCGCGGGCCAGGCGGAGGAGGGGGCGC...