Canonical Allele Identifier: CA1752418054

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958194_150958201delinsAGGCGTCG , CM000669.2:g.150958194_150958201delinsAGGCGTCG	GRCh38
NC_000007.13:g.150655282_150655289delinsAGGCGTCG , CM000669.1:g.150655282_150655289delinsAGGCGTCG	GRCh37
NC_000007.12:g.150286215_150286222delinsAGGCGTCG	NCBI36
NG_008916.1:g.24726_24733delinsCGACGCCT , LRG_288:g.24726_24733delinsCGACGCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1607_1614delinsCGACGCCT
ENST00000262186.10:c.774_781delinsCGACGCCT MANE Select	ENSP00000262186.5:p.Pro258=
ENST00000262186.9:c.774_781delinsCGACGCCT	ENSP00000262186.5:p.Pro258=
ENST00000430723.4:c.426_433delinsCGACGCCT	ENSP00000387657.4:p.Pro142=
ENST00000532957.5:n.997_1004delinsCGACGCCT
NM_000238.3:c.774_781delinsCGACGCCT , LRG_288t1:c.774_781delinsCGACGCCT	NP_000229.1:p.Pro258=
NM_172056.2:c.774_781delinsCGACGCCT , LRG_288t2:c.774_781delinsCGACGCCT	NP_742053.1:p.Pro258=
XM_011516185.1:c.474_481delinsCGACGCCT	XP_011514487.1:p.Pro158=
XM_011516186.1:c.774_781delinsCGACGCCT	XP_011514488.1:p.Pro258=
XM_011516185.2:c.474_481delinsCGACGCCT	XP_011514487.1:p.Pro158=
XM_011516186.3:c.774_781delinsCGACGCCT	XP_011514488.1:p.Pro258=
XM_017012195.1:c.624_631delinsCGACGCCT	XP_016867684.1:p.Pro208=
XM_017012196.1:c.597_604delinsCGACGCCT	XP_016867685.1:p.Pro199=
NM_000238.4:c.774_781delinsCGACGCCT MANE Select	NP_000229.1:p.Pro258=