Canonical Allele Identifier: CA2685602546

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948416-T-TTCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948416_150948417insTCCCCCCCCCCCCC , CM000669.2:g.150948416_150948417insTCCCCCCCCCCCCC	GRCh38
NC_000007.13:g.150645504_150645505insTCCCCCCCCCCCCC , CM000669.1:g.150645504_150645505insTCCCCCCCCCCCCC	GRCh37
NC_000007.12:g.150276437_150276438insTCCCCCCCCCCCCC	NCBI36
NG_008916.1:g.34510_34511insGGGGGGGGGGGGGA , LRG_288:g.34510_34511insGGGGGGGGGGGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+27_3525+28insGGGGGGGGGGGGGA
ENST00000262186.10:c.2692+27_2692+28insGGGGGGGGGGGGGA MANE Select	ENSP00000262186.5:n.2692+27_2692+28insGGGGGGGGGGGGGA
ENST00000330883.9:c.1672+27_1672+28insGGGGGGGGGGGGGA	ENSP00000328531.4:n.1672+27_1672+28insGGGGGGGGGGGGGA
ENST00000262186.9:c.2692+27_2692+28insGGGGGGGGGGGGGA	ENSP00000262186.5:n.2692+27_2692+28insGGGGGGGGGGGGGA
ENST00000330883.8:c.1672+27_1672+28insGGGGGGGGGGGGGA	ENSP00000328531.4:n.1672+27_1672+28insGGGGGGGGGGGGGA
NM_000238.3:c.2692+27_2692+28insGGGGGGGGGGGGGA , LRG_288t1:c.2692+27_2692+28insGGGGGGGGGGGGGA	NP_000229.1:n.2692+27_2692+28insGGGGGGGGGGGGGA
NM_172057.2:c.1672+27_1672+28insGGGGGGGGGGGGGA , LRG_288t3:c.1672+27_1672+28insGGGGGGGGGGGGGA	NP_742054.1:n.1672+27_1672+28insGGGGGGGGGGGGGA
XM_011516185.1:c.2392+27_2392+28insGGGGGGGGGGGGGA	XP_011514487.1:n.2392+27_2392+28insGGGGGGGGGGGGGA
XM_011516186.1:c.2692+27_2692+28insGGGGGGGGGGGGGA	XP_011514488.1:n.2692+27_2692+28insGGGGGGGGGGGGGA
XM_011516185.2:c.2392+27_2392+28insGGGGGGGGGGGGGA	XP_011514487.1:n.2392+27_2392+28insGGGGGGGGGGGGGA
XM_011516186.3:c.2692+27_2692+28insGGGGGGGGGGGGGA	XP_011514488.1:n.2692+27_2692+28insGGGGGGGGGGGGGA
XM_017012195.1:c.2542+27_2542+28insGGGGGGGGGGGGGA	XP_016867684.1:n.2542+27_2542+28insGGGGGGGGGGGGGA
XM_017012196.1:c.2515+27_2515+28insGGGGGGGGGGGGGA	XP_016867685.1:n.2515+27_2515+28insGGGGGGGGGGGGGA
NM_000238.4:c.2692+27_2692+28insGGGGGGGGGGGGGA MANE Select	NP_000229.1:n.2692+27_2692+28insGGGGGGGGGGGGGA
NM_172057.3:c.1672+27_1672+28insGGGGGGGGGGGGGA	NP_742054.1:n.1672+27_1672+28insGGGGGGGGGGGGGA