Canonical Allele Identifier: CA1752445787

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977667_150977679delinsGTGCACCAAGCCT , CM000669.2:g.150977667_150977679delinsGTGCACCAAGCCT	GRCh38
NC_000007.13:g.150674755_150674767delinsGTGCACCAAGCCT , CM000669.1:g.150674755_150674767delinsGTGCACCAAGCCT	GRCh37
NC_000007.12:g.150305688_150305700delinsGTGCACCAAGCCT	NCBI36
NG_008916.1:g.5248_5260delinsAGGCTTGGTGCAC , LRG_288:g.5248_5260delinsAGGCTTGGTGCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+159_76+171delinsAGGCTTGGTGCAC MANE Select	ENSP00000262186.5:n.76+159_76+171delinsAGGCTTGGTGCAC
ENST00000262186.9:c.76+159_76+171delinsAGGCTTGGTGCAC	ENSP00000262186.5:n.76+159_76+171delinsAGGCTTGGTGCAC
ENST00000430723.4:c.-102+159_-102+171delinsAGGCTTGGTGCAC	ENSP00000387657.4:n.-102+159_-102+171delinsAGGCTTGGTGCAC
ENST00000532957.5:n.299+159_299+171delinsAGGCTTGGTGCAC
NM_000238.3:c.76+159_76+171delinsAGGCTTGGTGCAC , LRG_288t1:c.76+159_76+171delinsAGGCTTGGTGCAC	NP_000229.1:n.76+159_76+171delinsAGGCTTGGTGCAC
NM_172056.2:c.76+159_76+171delinsAGGCTTGGTGCAC , LRG_288t2:c.76+159_76+171delinsAGGCTTGGTGCAC	NP_742053.1:n.76+159_76+171delinsAGGCTTGGTGCAC
XM_011516186.1:c.76+159_76+171delinsAGGCTTGGTGCAC	XP_011514488.1:n.76+159_76+171delinsAGGCTTGGTGCAC
XM_011516186.3:c.76+159_76+171delinsAGGCTTGGTGCAC	XP_011514488.1:n.76+159_76+171delinsAGGCTTGGTGCAC
NM_000238.4:c.76+159_76+171delinsAGGCTTGGTGCAC MANE Select	NP_000229.1:n.76+159_76+171delinsAGGCTTGGTGCAC