Canonical Allele Identifier: CA1752409469

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951498_150951509delinsGGAGAGACGTTG , CM000669.2:g.150951498_150951509delinsGGAGAGACGTTG	GRCh38
NC_000007.13:g.150648586_150648597delinsGGAGAGACGTTG , CM000669.1:g.150648586_150648597delinsGGAGAGACGTTG	GRCh37
NC_000007.12:g.150279519_150279530delinsGGAGAGACGTTG	NCBI36
NG_008916.1:g.31418_31429delinsCAACGTCTCTCC , LRG_288:g.31418_31429delinsCAACGTCTCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1182_1193delinsCAACGTCTCTCC
ENST00000683359.1:n.8_19delinsCAACGTCTCTCC
ENST00000684241.1:n.2717_2728delinsCAACGTCTCTCC
ENST00000262186.10:c.1884_1895delinsCAACGTCTCTCC MANE Select	ENSP00000262186.5:p.Gly628=
ENST00000330883.9:c.864_875delinsCAACGTCTCTCC	ENSP00000328531.4:p.Gly288=
ENST00000262186.9:c.1884_1895delinsCAACGTCTCTCC	ENSP00000262186.5:p.Gly628=
ENST00000330883.8:c.864_875delinsCAACGTCTCTCC	ENSP00000328531.4:p.Gly288=
ENST00000430723.4:c.1536_1547delinsCAACGTCTCTCC	ENSP00000387657.4:p.Gly512=
ENST00000461280.1:n.1171_1182delinsCAACGTCTCTCC
ENST00000473610.5:n.1189_1200delinsCAACGTCTCTCC
ENST00000532957.5:n.2107_2118delinsCAACGTCTCTCC
NM_000238.3:c.1884_1895delinsCAACGTCTCTCC , LRG_288t1:c.1884_1895delinsCAACGTCTCTCC	NP_000229.1:p.Gly628=
NM_001204798.1:c.864_875delinsCAACGTCTCTCC	NP_001191727.1:p.Gly288=
NM_172056.2:c.1884_1895delinsCAACGTCTCTCC , LRG_288t2:c.1884_1895delinsCAACGTCTCTCC	NP_742053.1:p.Gly628=
NM_172057.2:c.864_875delinsCAACGTCTCTCC , LRG_288t3:c.864_875delinsCAACGTCTCTCC	NP_742054.1:p.Gly288=
XM_011516185.1:c.1584_1595delinsCAACGTCTCTCC	XP_011514487.1:p.Gly528=
XM_011516186.1:c.1884_1895delinsCAACGTCTCTCC	XP_011514488.1:p.Gly628=
XM_011516185.2:c.1584_1595delinsCAACGTCTCTCC	XP_011514487.1:p.Gly528=
XM_011516186.3:c.1884_1895delinsCAACGTCTCTCC	XP_011514488.1:p.Gly628=
XM_017012195.1:c.1734_1745delinsCAACGTCTCTCC	XP_016867684.1:p.Gly578=
XM_017012196.1:c.1707_1718delinsCAACGTCTCTCC	XP_016867685.1:p.Gly569=
NM_000238.4:c.1884_1895delinsCAACGTCTCTCC MANE Select	NP_000229.1:p.Gly628=
NM_001204798.2:c.864_875delinsCAACGTCTCTCC	NP_001191727.1:p.Gly288=
NM_172057.3:c.864_875delinsCAACGTCTCTCC	NP_742054.1:p.Gly288=