Canonical Allele Identifier: CA1752429255

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947425_150947431delinsTGGGGGC , CM000669.2:g.150947425_150947431delinsTGGGGGC	GRCh38
NC_000007.13:g.150644513_150644519delinsTGGGGGC , CM000669.1:g.150644513_150644519delinsTGGGGGC	GRCh37
NC_000007.12:g.150275446_150275452delinsTGGGGGC	NCBI36
NG_008916.1:g.35496_35502delinsGCCCCCA , LRG_288:g.35496_35502delinsGCCCCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3882_3888delinsGCCCCCA
ENST00000262186.10:c.3049_3055delinsGCCCCCA MANE Select	ENSP00000262186.5:p.Ala1017=
ENST00000330883.9:c.2029_2035delinsGCCCCCA	ENSP00000328531.4:p.Ala677=
ENST00000262186.9:c.3049_3055delinsGCCCCCA	ENSP00000262186.5:p.Ala1017=
ENST00000330883.8:c.2029_2035delinsGCCCCCA	ENSP00000328531.4:p.Ala677=
NM_000238.3:c.3049_3055delinsGCCCCCA , LRG_288t1:c.3049_3055delinsGCCCCCA	NP_000229.1:p.Ala1017=
NM_172057.2:c.2029_2035delinsGCCCCCA , LRG_288t3:c.2029_2035delinsGCCCCCA	NP_742054.1:p.Ala677=
XM_011516185.1:c.2749_2755delinsGCCCCCA	XP_011514487.1:p.Ala917=
XM_011516186.1:c.*129_*135delinsGCCCCCA	XP_011514488.1:n.*129_*135delinsGCCCCCA
XM_011516185.2:c.2749_2755delinsGCCCCCA	XP_011514487.1:p.Ala917=
XM_011516186.3:c.*129_*135delinsGCCCCCA	XP_011514488.1:n.*129_*135delinsGCCCCCA
XM_017012195.1:c.2899_2905delinsGCCCCCA	XP_016867684.1:p.Ala967=
XM_017012196.1:c.2872_2878delinsGCCCCCA	XP_016867685.1:p.Ala958=
NM_000238.4:c.3049_3055delinsGCCCCCA MANE Select	NP_000229.1:p.Ala1017=
NM_172057.3:c.2029_2035delinsGCCCCCA	NP_742054.1:p.Ala677=