Canonical Allele Identifier: CA2685600492

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948471-ACTTGCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948478_150948483del , CM000669.2:g.150948478_150948483del	GRCh38
NC_000007.13:g.150645566_150645571del , CM000669.1:g.150645566_150645571del	GRCh37
NC_000007.12:g.150276499_150276504del	NCBI36
NG_008916.1:g.34450_34455del , LRG_288:g.34450_34455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3492_3497del
ENST00000262186.10:c.2659_2664del MANE Select	ENSP00000262186.5:p.Arg887_Lys888del
ENST00000330883.9:c.1639_1644del	ENSP00000328531.4:p.Arg547_Lys548del
ENST00000262186.9:c.2659_2664del	ENSP00000262186.5:p.Arg887_Lys888del
ENST00000330883.8:c.1639_1644del	ENSP00000328531.4:p.Arg547_Lys548del
NM_000238.3:c.2659_2664del , LRG_288t1:c.2659_2664del	NP_000229.1:p.Arg887_Lys888del
NM_172057.2:c.1639_1644del , LRG_288t3:c.1639_1644del	NP_742054.1:p.Arg547_Lys548del
XM_011516185.1:c.2359_2364del	XP_011514487.1:p.Arg787_Lys788del
XM_011516186.1:c.2659_2664del	XP_011514488.1:p.Arg887_Lys888del
XM_011516185.2:c.2359_2364del	XP_011514487.1:p.Arg787_Lys788del
XM_011516186.3:c.2659_2664del	XP_011514488.1:p.Arg887_Lys888del
XM_017012195.1:c.2509_2514del	XP_016867684.1:p.Arg837_Lys838del
XM_017012196.1:c.2482_2487del	XP_016867685.1:p.Arg828_Lys829del
NM_000238.4:c.2659_2664del MANE Select	NP_000229.1:p.Arg887_Lys888del
NM_172057.3:c.1639_1644del	NP_742054.1:p.Arg547_Lys548del