Canonical Allele Identifier: CA2685601943

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947425-T-TGGGGGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947430_150947431insGGGGGGGGGGGGGGGGGG , CM000669.2:g.150947430_150947431insGGGGGGGGGGGGGGGGGG	GRCh38
NC_000007.13:g.150644518_150644519insGGGGGGGGGGGGGGGGGG , CM000669.1:g.150644518_150644519insGGGGGGGGGGGGGGGGGG	GRCh37
NC_000007.12:g.150275451_150275452insGGGGGGGGGGGGGGGGGG	NCBI36
NG_008916.1:g.35501_35502insCCCCCCCCCCCCCCCCCC , LRG_288:g.35501_35502insCCCCCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3887_3888insCCCCCCCCCCCCCCCCCC
ENST00000262186.10:c.3054_3055insCCCCCCCCCCCCCCCCCC MANE Select	ENSP00000262186.5:p.Pro1018_Thr1019insProProProProProPro
ENST00000330883.9:c.2034_2035insCCCCCCCCCCCCCCCCCC	ENSP00000328531.4:p.Pro678_Thr679insProProProProProPro
ENST00000262186.9:c.3054_3055insCCCCCCCCCCCCCCCCCC	ENSP00000262186.5:p.Pro1018_Thr1019insProProProProProPro
ENST00000330883.8:c.2034_2035insCCCCCCCCCCCCCCCCCC	ENSP00000328531.4:p.Pro678_Thr679insProProProProProPro
NM_000238.3:c.3054_3055insCCCCCCCCCCCCCCCCCC , LRG_288t1:c.3054_3055insCCCCCCCCCCCCCCCCCC	NP_000229.1:p.Pro1018_Thr1019insProProProProProPro
NM_172057.2:c.2034_2035insCCCCCCCCCCCCCCCCCC , LRG_288t3:c.2034_2035insCCCCCCCCCCCCCCCCCC	NP_742054.1:p.Pro678_Thr679insProProProProProPro
XM_011516185.1:c.2754_2755insCCCCCCCCCCCCCCCCCC	XP_011514487.1:p.Pro918_Thr919insProProProProProPro
XM_011516186.1:c.*134_*135insCCCCCCCCCCCCCCCCCC	XP_011514488.1:n.*134_*135insCCCCCCCCCCCCCCCCCC
XM_011516185.2:c.2754_2755insCCCCCCCCCCCCCCCCCC	XP_011514487.1:p.Pro918_Thr919insProProProProProPro
XM_011516186.3:c.*134_*135insCCCCCCCCCCCCCCCCCC	XP_011514488.1:n.*134_*135insCCCCCCCCCCCCCCCCCC
XM_017012195.1:c.2904_2905insCCCCCCCCCCCCCCCCCC	XP_016867684.1:p.Pro968_Thr969insProProProProProPro
XM_017012196.1:c.2877_2878insCCCCCCCCCCCCCCCCCC	XP_016867685.1:p.Pro959_Thr960insProProProProProPro
NM_000238.4:c.3054_3055insCCCCCCCCCCCCCCCCCC MANE Select	NP_000229.1:p.Pro1018_Thr1019insProProProProProPro
NM_172057.3:c.2034_2035insCCCCCCCCCCCCCCCCCC	NP_742054.1:p.Pro678_Thr679insProProProProProPro