Canonical Allele Identifier: CA1752428895

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947410_150947413delinsTGAG , CM000669.2:g.150947410_150947413delinsTGAG	GRCh38
NC_000007.13:g.150644498_150644501delinsTGAG , CM000669.1:g.150644498_150644501delinsTGAG	GRCh37
NC_000007.12:g.150275431_150275434delinsTGAG	NCBI36
NG_008916.1:g.35514_35517delinsCTCA , LRG_288:g.35514_35517delinsCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3900_3903delinsCTCA
ENST00000262186.10:c.3067_3070delinsCTCA MANE Select	ENSP00000262186.5:p.Leu1023=
ENST00000330883.9:c.2047_2050delinsCTCA	ENSP00000328531.4:p.Leu683=
ENST00000262186.9:c.3067_3070delinsCTCA	ENSP00000262186.5:p.Leu1023=
ENST00000330883.8:c.2047_2050delinsCTCA	ENSP00000328531.4:p.Leu683=
NM_000238.3:c.3067_3070delinsCTCA , LRG_288t1:c.3067_3070delinsCTCA	NP_000229.1:p.Leu1023=
NM_172057.2:c.2047_2050delinsCTCA , LRG_288t3:c.2047_2050delinsCTCA	NP_742054.1:p.Leu683=
XM_011516185.1:c.2767_2770delinsCTCA	XP_011514487.1:p.Leu923=
XM_011516185.2:c.2767_2770delinsCTCA	XP_011514487.1:p.Leu923=
XM_017012195.1:c.2917_2920delinsCTCA	XP_016867684.1:p.Leu973=
XM_017012196.1:c.2890_2893delinsCTCA	XP_016867685.1:p.Leu964=
NM_000238.4:c.3067_3070delinsCTCA MANE Select	NP_000229.1:p.Leu1023=
NM_172057.3:c.2047_2050delinsCTCA	NP_742054.1:p.Leu683=