Canonical Allele Identifier: CA2685606018

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150957512-GAGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957515_150957518del , CM000669.2:g.150957515_150957518del	GRCh38
NC_000007.13:g.150654603_150654606del , CM000669.1:g.150654603_150654606del	GRCh37
NC_000007.12:g.150285536_150285539del	NCBI36
NG_008916.1:g.25411_25414del , LRG_288:g.25411_25414del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1750-14_1750-11del
ENST00000262186.10:c.917-14_917-11del MANE Select	ENSP00000262186.5:n.917-14_917-11del
ENST00000262186.9:c.917-14_917-11del	ENSP00000262186.5:n.917-14_917-11del
ENST00000430723.4:c.569-14_569-11del	ENSP00000387657.4:n.569-14_569-11del
ENST00000532957.5:n.1140-14_1140-11del
NM_000238.3:c.917-14_917-11del , LRG_288t1:c.917-14_917-11del	NP_000229.1:n.917-14_917-11del
NM_172056.2:c.917-14_917-11del , LRG_288t2:c.917-14_917-11del	NP_742053.1:n.917-14_917-11del
XM_011516185.1:c.617-14_617-11del	XP_011514487.1:n.617-14_617-11del
XM_011516186.1:c.917-14_917-11del	XP_011514488.1:n.917-14_917-11del
XM_011516185.2:c.617-14_617-11del	XP_011514487.1:n.617-14_617-11del
XM_011516186.3:c.917-14_917-11del	XP_011514488.1:n.917-14_917-11del
XM_017012195.1:c.767-14_767-11del	XP_016867684.1:n.767-14_767-11del
XM_017012196.1:c.740-14_740-11del	XP_016867685.1:n.740-14_740-11del
NM_000238.4:c.917-14_917-11del MANE Select	NP_000229.1:n.917-14_917-11del