Canonical Allele Identifier: CA1752431270

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948449_150948456delinsTCCGTGCG , CM000669.2:g.150948449_150948456delinsTCCGTGCG	GRCh38
NC_000007.13:g.150645537_150645544delinsTCCGTGCG , CM000669.1:g.150645537_150645544delinsTCCGTGCG	GRCh37
NC_000007.12:g.150276470_150276477delinsTCCGTGCG	NCBI36
NG_008916.1:g.34471_34478delinsCGCACGGA , LRG_288:g.34471_34478delinsCGCACGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3513_3520delinsCGCACGGA
ENST00000262186.10:c.2680_2687delinsCGCACGGA MANE Select	ENSP00000262186.5:p.Arg894=
ENST00000330883.9:c.1660_1667delinsCGCACGGA	ENSP00000328531.4:p.Arg554=
ENST00000262186.9:c.2680_2687delinsCGCACGGA	ENSP00000262186.5:p.Arg894=
ENST00000330883.8:c.1660_1667delinsCGCACGGA	ENSP00000328531.4:p.Arg554=
NM_000238.3:c.2680_2687delinsCGCACGGA , LRG_288t1:c.2680_2687delinsCGCACGGA	NP_000229.1:p.Arg894=
NM_172057.2:c.1660_1667delinsCGCACGGA , LRG_288t3:c.1660_1667delinsCGCACGGA	NP_742054.1:p.Arg554=
XM_011516185.1:c.2380_2387delinsCGCACGGA	XP_011514487.1:p.Arg794=
XM_011516186.1:c.2680_2687delinsCGCACGGA	XP_011514488.1:p.Arg894=
XM_011516185.2:c.2380_2387delinsCGCACGGA	XP_011514487.1:p.Arg794=
XM_011516186.3:c.2680_2687delinsCGCACGGA	XP_011514488.1:p.Arg894=
XM_017012195.1:c.2530_2537delinsCGCACGGA	XP_016867684.1:p.Arg844=
XM_017012196.1:c.2503_2510delinsCGCACGGA	XP_016867685.1:p.Arg835=
NM_000238.4:c.2680_2687delinsCGCACGGA MANE Select	NP_000229.1:p.Arg894=
NM_172057.3:c.1660_1667delinsCGCACGGA	NP_742054.1:p.Arg554=