Canonical Allele Identifier: CA2502904577

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948465-A-ACTTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948465_150948466insCTTGC , CM000669.2:g.150948465_150948466insCTTGC	GRCh38
NC_000007.13:g.150645553_150645554insCTTGC , CM000669.1:g.150645553_150645554insCTTGC	GRCh37
NC_000007.12:g.150276486_150276487insCTTGC	NCBI36
NG_008916.1:g.34461_34462insGCAAG , LRG_288:g.34461_34462insGCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3503_3504insGCAAG
ENST00000262186.10:c.2670_2671insGCAAG MANE Select	ENSP00000262186.5:p.Phe891AlafsTer?
ENST00000330883.9:c.1650_1651insGCAAG	ENSP00000328531.4:p.Phe551AlafsTer?
ENST00000262186.9:c.2670_2671insGCAAG	ENSP00000262186.5:p.Phe891AlafsTer?
ENST00000330883.8:c.1650_1651insGCAAG	ENSP00000328531.4:p.Phe551AlafsTer?
NM_000238.3:c.2670_2671insGCAAG , LRG_288t1:c.2670_2671insGCAAG	NP_000229.1:p.Phe891AlafsTer?
NM_172057.2:c.1650_1651insGCAAG , LRG_288t3:c.1650_1651insGCAAG	NP_742054.1:p.Phe551AlafsTer?
XM_011516185.1:c.2370_2371insGCAAG	XP_011514487.1:p.Phe791AlafsTer?
XM_011516186.1:c.2670_2671insGCAAG	XP_011514488.1:p.Phe891AlafsTer?
XM_011516185.2:c.2370_2371insGCAAG	XP_011514487.1:p.Phe791AlafsTer?
XM_011516186.3:c.2670_2671insGCAAG	XP_011514488.1:p.Phe891AlafsTer?
XM_017012195.1:c.2520_2521insGCAAG	XP_016867684.1:p.Phe841AlafsTer?
XM_017012196.1:c.2493_2494insGCAAG	XP_016867685.1:p.Phe832AlafsTer?
NM_000238.4:c.2670_2671insGCAAG MANE Select	NP_000229.1:p.Phe891AlafsTer?
NM_172057.3:c.1650_1651insGCAAG	NP_742054.1:p.Phe551AlafsTer?