Canonical Allele Identifier: CA1752434454

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951098_150951099delinsGA , CM000669.2:g.150951098_150951099delinsGA	GRCh38
NC_000007.13:g.150648186_150648187delinsGA , CM000669.1:g.150648186_150648187delinsGA	GRCh37
NC_000007.12:g.150279119_150279120delinsGA	NCBI36
NG_008916.1:g.31828_31829delinsTC , LRG_288:g.31828_31829delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1265_1266delinsTC
ENST00000683359.1:n.91_92delinsTC
ENST00000684241.1:n.2800_2801delinsTC
ENST00000262186.10:c.1967_1968delinsTC MANE Select	ENSP00000262186.5:p.Phe656=
ENST00000330883.9:c.947_948delinsTC	ENSP00000328531.4:p.Phe316=
ENST00000262186.9:c.1967_1968delinsTC	ENSP00000262186.5:p.Phe656=
ENST00000330883.8:c.947_948delinsTC	ENSP00000328531.4:p.Phe316=
ENST00000430723.4:c.1619_1620delinsTC	ENSP00000387657.4:p.Phe540=
ENST00000461280.1:n.1254_1255delinsTC
ENST00000473610.5:n.1599_1600delinsTC
ENST00000532957.5:n.2190_2191delinsTC
NM_000238.3:c.1967_1968delinsTC , LRG_288t1:c.1967_1968delinsTC	NP_000229.1:p.Phe656=
NM_001204798.1:c.947_948delinsTC	NP_001191727.1:p.Phe316=
NM_172056.2:c.1967_1968delinsTC , LRG_288t2:c.1967_1968delinsTC	NP_742053.1:p.Phe656=
NM_172057.2:c.947_948delinsTC , LRG_288t3:c.947_948delinsTC	NP_742054.1:p.Phe316=
XM_011516185.1:c.1667_1668delinsTC	XP_011514487.1:p.Phe556=
XM_011516186.1:c.1967_1968delinsTC	XP_011514488.1:p.Phe656=
XM_011516185.2:c.1667_1668delinsTC	XP_011514487.1:p.Phe556=
XM_011516186.3:c.1967_1968delinsTC	XP_011514488.1:p.Phe656=
XM_017012195.1:c.1817_1818delinsTC	XP_016867684.1:p.Phe606=
XM_017012196.1:c.1790_1791delinsTC	XP_016867685.1:p.Phe597=
NM_000238.4:c.1967_1968delinsTC MANE Select	NP_000229.1:p.Phe656=
NM_001204798.2:c.947_948delinsTC	NP_001191727.1:p.Phe316=
NM_172057.3:c.947_948delinsTC	NP_742054.1:p.Phe316=