Canonical Allele Identifier: CA1752446094

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977802_150977818delinsGAGCCCCCTCCCCGCTC , CM000669.2:g.150977802_150977818delinsGAGCCCCCTCCCCGCTC	GRCh38
NC_000007.13:g.150674890_150674906delinsGAGCCCCCTCCCCGCTC , CM000669.1:g.150674890_150674906delinsGAGCCCCCTCCCCGCTC	GRCh37
NC_000007.12:g.150305823_150305839delinsGAGCCCCCTCCCCGCTC	NCBI36
NG_008916.1:g.5109_5125delinsGAGCGGGGAGGGGGCTC , LRG_288:g.5109_5125delinsGAGCGGGGAGGGGGCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+20_76+36delinsGAGCGGGGAGGGGGCTC MANE Select	ENSP00000262186.5:n.76+20_76+36delinsGAGCGGGGAGGGGGCTC
ENST00000262186.9:c.76+20_76+36delinsGAGCGGGGAGGGGGCTC	ENSP00000262186.5:n.76+20_76+36delinsGAGCGGGGAGGGGGCTC
ENST00000430723.4:c.-102+20_-102+36delinsGAGCGGGGAGGGGGCTC	ENSP00000387657.4:n.-102+20_-102+36delinsGAGCGGGGAGGGGGCTC
ENST00000532957.5:n.299+20_299+36delinsGAGCGGGGAGGGGGCTC
NM_000238.3:c.76+20_76+36delinsGAGCGGGGAGGGGGCTC , LRG_288t1:c.76+20_76+36delinsGAGCGGGGAGGGGGCTC	NP_000229.1:n.76+20_76+36delinsGAGCGGGGAGGGGGCTC
NM_172056.2:c.76+20_76+36delinsGAGCGGGGAGGGGGCTC , LRG_288t2:c.76+20_76+36delinsGAGCGGGGAGGGGGCTC	NP_742053.1:n.76+20_76+36delinsGAGCGGGGAGGGGGCTC
XM_011516186.1:c.76+20_76+36delinsGAGCGGGGAGGGGGCTC	XP_011514488.1:n.76+20_76+36delinsGAGCGGGGAGGGGGCTC
XM_011516186.3:c.76+20_76+36delinsGAGCGGGGAGGGGGCTC	XP_011514488.1:n.76+20_76+36delinsGAGCGGGGAGGGGGCTC
NM_000238.4:c.76+20_76+36delinsGAGCGGGGAGGGGGCTC MANE Select	NP_000229.1:n.76+20_76+36delinsGAGCGGGGAGGGGGCTC