Canonical Allele Identifier: CA1752418599

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958405_150958420delinsGGCGCCCGCGCCGCCC , CM000669.2:g.150958405_150958420delinsGGCGCCCGCGCCGCCC	GRCh38
NC_000007.13:g.150655493_150655508delinsGGCGCCCGCGCCGCCC , CM000669.1:g.150655493_150655508delinsGGCGCCCGCGCCGCCC	GRCh37
NC_000007.12:g.150286426_150286441delinsGGCGCCCGCGCCGCCC	NCBI36
NG_008916.1:g.24507_24522delinsGGGCGGCGCGGGCGCC , LRG_288:g.24507_24522delinsGGGCGGCGCGGGCGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1388_1403delinsGGGCGGCGCGGGCGCC
ENST00000262186.10:c.555_570delinsGGGCGGCGCGGGCGCC MANE Select	ENSP00000262186.5:p.Ala185=
ENST00000262186.9:c.555_570delinsGGGCGGCGCGGGCGCC	ENSP00000262186.5:p.Ala185=
ENST00000430723.4:c.235-28_235-13delinsGGGCGGCGCGGGCGCC	ENSP00000387657.4:n.235-28_235-13delinsGGGCGGCGCGGGCGCC
ENST00000532957.5:n.778_793delinsGGGCGGCGCGGGCGCC
NM_000238.3:c.555_570delinsGGGCGGCGCGGGCGCC , LRG_288t1:c.555_570delinsGGGCGGCGCGGGCGCC	NP_000229.1:p.Ala185=
NM_172056.2:c.555_570delinsGGGCGGCGCGGGCGCC , LRG_288t2:c.555_570delinsGGGCGGCGCGGGCGCC	NP_742053.1:p.Ala185=
XM_011516185.1:c.255_270delinsGGGCGGCGCGGGCGCC	XP_011514487.1:p.Ala85=
XM_011516186.1:c.555_570delinsGGGCGGCGCGGGCGCC	XP_011514488.1:p.Ala185=
XM_011516185.2:c.255_270delinsGGGCGGCGCGGGCGCC	XP_011514487.1:p.Ala85=
XM_011516186.3:c.555_570delinsGGGCGGCGCGGGCGCC	XP_011514488.1:p.Ala185=
XM_017012195.1:c.405_420delinsGGGCGGCGCGGGCGCC	XP_016867684.1:p.Ala135=
XM_017012196.1:c.378_393delinsGGGCGGCGCGGGCGCC	XP_016867685.1:p.Ala126=
NM_000238.4:c.555_570delinsGGGCGGCGCGGGCGCC MANE Select	NP_000229.1:p.Ala185=