Canonical Allele Identifier: CA1752434396

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951076_150951100delinsGGATGATGGCCGACACGTTGCCGAA , CM000669.2:g.150951076_150951100delinsGGATGATGGCCGACACGTTGCCGAA	GRCh38
NC_000007.13:g.150648164_150648188delinsGGATGATGGCCGACACGTTGCCGAA , CM000669.1:g.150648164_150648188delinsGGATGATGGCCGACACGTTGCCGAA	GRCh37
NC_000007.12:g.150279097_150279121delinsGGATGATGGCCGACACGTTGCCGAA	NCBI36
NG_008916.1:g.31827_31851delinsTTCGGCAACGTGTCGGCCATCATCC , LRG_288:g.31827_31851delinsTTCGGCAACGTGTCGGCCATCATCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1264_1288delinsTTCGGCAACGTGTCGGCCATCATCC
ENST00000683359.1:n.90_114delinsTTCGGCAACGTGTCGGCCATCATCC
ENST00000684241.1:n.2799_2823delinsTTCGGCAACGTGTCGGCCATCATCC
ENST00000262186.10:c.1966_1990delinsTTCGGCAACGTGTCGGCCATCATCC MANE Select	ENSP00000262186.5:p.Phe656=
ENST00000330883.9:c.946_970delinsTTCGGCAACGTGTCGGCCATCATCC	ENSP00000328531.4:p.Phe316=
ENST00000262186.9:c.1966_1990delinsTTCGGCAACGTGTCGGCCATCATCC	ENSP00000262186.5:p.Phe656=
ENST00000330883.8:c.946_970delinsTTCGGCAACGTGTCGGCCATCATCC	ENSP00000328531.4:p.Phe316=
ENST00000430723.4:c.1618_1642delinsTTCGGCAACGTGTCGGCCATCATCC	ENSP00000387657.4:p.Phe540=
ENST00000461280.1:n.1253_1277delinsTTCGGCAACGTGTCGGCCATCATCC
ENST00000473610.5:n.1598_1622delinsTTCGGCAACGTGTCGGCCATCATCC
ENST00000532957.5:n.2189_2213delinsTTCGGCAACGTGTCGGCCATCATCC
NM_000238.3:c.1966_1990delinsTTCGGCAACGTGTCGGCCATCATCC , LRG_288t1:c.1966_1990delinsTTCGGCAACGTGTCGGCCATCATCC	NP_000229.1:p.Phe656=
NM_001204798.1:c.946_970delinsTTCGGCAACGTGTCGGCCATCATCC	NP_001191727.1:p.Phe316=
NM_172056.2:c.1966_1990delinsTTCGGCAACGTGTCGGCCATCATCC , LRG_288t2:c.1966_1990delinsTTCGGCAACGTGTCGGCCATCATCC	NP_742053.1:p.Phe656=
NM_172057.2:c.946_970delinsTTCGGCAACGTGTCGGCCATCATCC , LRG_288t3:c.946_970delinsTTCGGCAACGTGTCGGCCATCATCC	NP_742054.1:p.Phe316=
XM_011516185.1:c.1666_1690delinsTTCGGCAACGTGTCGGCCATCATCC	XP_011514487.1:p.Phe556=
XM_011516186.1:c.1966_1990delinsTTCGGCAACGTGTCGGCCATCATCC	XP_011514488.1:p.Phe656=
XM_011516185.2:c.1666_1690delinsTTCGGCAACGTGTCGGCCATCATCC	XP_011514487.1:p.Phe556=
XM_011516186.3:c.1966_1990delinsTTCGGCAACGTGTCGGCCATCATCC	XP_011514488.1:p.Phe656=
XM_017012195.1:c.1816_1840delinsTTCGGCAACGTGTCGGCCATCATCC	XP_016867684.1:p.Phe606=
XM_017012196.1:c.1789_1813delinsTTCGGCAACGTGTCGGCCATCATCC	XP_016867685.1:p.Phe597=
NM_000238.4:c.1966_1990delinsTTCGGCAACGTGTCGGCCATCATCC MANE Select	NP_000229.1:p.Phe656=
NM_001204798.2:c.946_970delinsTTCGGCAACGTGTCGGCCATCATCC	NP_001191727.1:p.Phe316=
NM_172057.3:c.946_970delinsTTCGGCAACGTGTCGGCCATCATCC	NP_742054.1:p.Phe316=