Canonical Allele Identifier: CA1752445656

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977618_150977625delinsCGCCCCAA , CM000669.2:g.150977618_150977625delinsCGCCCCAA	GRCh38
NC_000007.13:g.150674706_150674713delinsCGCCCCAA , CM000669.1:g.150674706_150674713delinsCGCCCCAA	GRCh37
NC_000007.12:g.150305639_150305646delinsCGCCCCAA	NCBI36
NG_008916.1:g.5302_5309delinsTTGGGGCG , LRG_288:g.5302_5309delinsTTGGGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+213_76+220delinsTTGGGGCG MANE Select	ENSP00000262186.5:n.76+213_76+220delinsTTGGGGCG
ENST00000262186.9:c.76+213_76+220delinsTTGGGGCG	ENSP00000262186.5:n.76+213_76+220delinsTTGGGGCG
ENST00000430723.4:c.-102+213_-102+220delinsTTGGGGCG	ENSP00000387657.4:n.-102+213_-102+220delinsTTGGGGCG
ENST00000532957.5:n.299+213_299+220delinsTTGGGGCG
NM_000238.3:c.76+213_76+220delinsTTGGGGCG , LRG_288t1:c.76+213_76+220delinsTTGGGGCG	NP_000229.1:n.76+213_76+220delinsTTGGGGCG
NM_172056.2:c.76+213_76+220delinsTTGGGGCG , LRG_288t2:c.76+213_76+220delinsTTGGGGCG	NP_742053.1:n.76+213_76+220delinsTTGGGGCG
XM_011516186.1:c.76+213_76+220delinsTTGGGGCG	XP_011514488.1:n.76+213_76+220delinsTTGGGGCG
XM_011516186.3:c.76+213_76+220delinsTTGGGGCG	XP_011514488.1:n.76+213_76+220delinsTTGGGGCG
NM_000238.4:c.76+213_76+220delinsTTGGGGCG MANE Select	NP_000229.1:n.76+213_76+220delinsTTGGGGCG