Canonical Allele Identifier: CA1752417868

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958115_150958122delinsTCGTCGGC , CM000669.2:g.150958115_150958122delinsTCGTCGGC	GRCh38
NC_000007.13:g.150655203_150655210delinsTCGTCGGC , CM000669.1:g.150655203_150655210delinsTCGTCGGC	GRCh37
NC_000007.12:g.150286136_150286143delinsTCGTCGGC	NCBI36
NG_008916.1:g.24805_24812delinsGCCGACGA , LRG_288:g.24805_24812delinsGCCGACGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1686_1693delinsGCCGACGA
ENST00000262186.10:c.853_860delinsGCCGACGA MANE Select	ENSP00000262186.5:p.Ala285=
ENST00000262186.9:c.853_860delinsGCCGACGA	ENSP00000262186.5:p.Ala285=
ENST00000430723.4:c.505_512delinsGCCGACGA	ENSP00000387657.4:p.Ala169=
ENST00000532957.5:n.1076_1083delinsGCCGACGA
NM_000238.3:c.853_860delinsGCCGACGA , LRG_288t1:c.853_860delinsGCCGACGA	NP_000229.1:p.Ala285=
NM_172056.2:c.853_860delinsGCCGACGA , LRG_288t2:c.853_860delinsGCCGACGA	NP_742053.1:p.Ala285=
XM_011516185.1:c.553_560delinsGCCGACGA	XP_011514487.1:p.Ala185=
XM_011516186.1:c.853_860delinsGCCGACGA	XP_011514488.1:p.Ala285=
XM_011516185.2:c.553_560delinsGCCGACGA	XP_011514487.1:p.Ala185=
XM_011516186.3:c.853_860delinsGCCGACGA	XP_011514488.1:p.Ala285=
XM_017012195.1:c.703_710delinsGCCGACGA	XP_016867684.1:p.Ala235=
XM_017012196.1:c.676_683delinsGCCGACGA	XP_016867685.1:p.Ala226=
NM_000238.4:c.853_860delinsGCCGACGA MANE Select	NP_000229.1:p.Ala285=