Canonical Allele Identifier: CA2685607397

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958129-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958133_150958134del , CM000669.2:g.150958133_150958134del	GRCh38
NC_000007.13:g.150655221_150655222del , CM000669.1:g.150655221_150655222del	GRCh37
NC_000007.12:g.150286154_150286155del	NCBI36
NG_008916.1:g.24796_24797del , LRG_288:g.24796_24797del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1677_1678del
ENST00000262186.10:c.844_845del MANE Select	ENSP00000262186.5:p.Ala282LeufsTer?
ENST00000262186.9:c.844_845del	ENSP00000262186.5:p.Ala282LeufsTer?
ENST00000430723.4:c.496_497del	ENSP00000387657.4:p.Ala166LeufsTer?
ENST00000532957.5:n.1067_1068del
NM_000238.3:c.844_845del , LRG_288t1:c.844_845del	NP_000229.1:p.Ala282LeufsTer?
NM_172056.2:c.844_845del , LRG_288t2:c.844_845del	NP_742053.1:p.Ala282LeufsTer?
XM_011516185.1:c.544_545del	XP_011514487.1:p.Ala182LeufsTer?
XM_011516186.1:c.844_845del	XP_011514488.1:p.Ala282LeufsTer?
XM_011516185.2:c.544_545del	XP_011514487.1:p.Ala182LeufsTer?
XM_011516186.3:c.844_845del	XP_011514488.1:p.Ala282LeufsTer?
XM_017012195.1:c.694_695del	XP_016867684.1:p.Ala232LeufsTer?
XM_017012196.1:c.667_668del	XP_016867685.1:p.Ala223LeufsTer?
NM_000238.4:c.844_845del MANE Select	NP_000229.1:p.Ala282LeufsTer?