Canonical Allele Identifier: CA1752432916

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950047_150950082delinsGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGC , CM000669.2:g.150950047_150950082delinsGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGC	GRCh38
NC_000007.13:g.150647135_150647170delinsGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGC , CM000669.1:g.150647135_150647170delinsGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGC	GRCh37
NC_000007.12:g.150278068_150278103delinsGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGC	NCBI36
NG_008916.1:g.32845_32880delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC , LRG_288:g.32845_32880delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1782_1817delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC
ENST00000684241.1:n.3231+86_3231+121delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC
ENST00000262186.10:c.2398+86_2398+121delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC MANE Select	ENSP00000262186.5:n.2398+86_2398+121delin...
ENST00000330883.9:c.1378+86_1378+121delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC	ENSP00000328531.4:n.1378+86_1378+121delin...
ENST00000262186.9:c.2398+86_2398+121delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC	ENSP00000262186.5:n.2398+86_2398+121delin...
ENST00000330883.8:c.1378+86_1378+121delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC	ENSP00000328531.4:n.1378+86_1378+121delin...
ENST00000430723.4:c.2136_2171delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC	ENSP00000387657.4:p.Gly712=
ENST00000461280.1:n.1771_1806delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC
ENST00000473610.5:n.2116_2151delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC
ENST00000532957.5:n.2707_2742delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC
NM_000238.3:c.2398+86_2398+121delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC , LRG_288t1:c.2398+86_2398+121delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC	NP_000229.1:n.2398+86_2398+121delinsGCTGT...
NM_001204798.1:c.1464_1499delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC	NP_001191727.1:p.Gly488=
NM_172056.2:c.2484_2519delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC , LRG_288t2:c.2484_2519delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC	NP_742053.1:p.Gly828=
NM_172057.2:c.1378+86_1378+121delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC , LRG_288t3:c.1378+86_1378+121delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC	NP_742054.1:n.1378+86_1378+121delinsGCTGT...
XM_011516185.1:c.2098+86_2098+121delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC	XP_011514487.1:n.2098+86_2098+121delinsGC...
XM_011516186.1:c.2398+86_2398+121delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC	XP_011514488.1:n.2398+86_2398+121delinsGC...
XM_011516185.2:c.2098+86_2098+121delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC	XP_011514487.1:n.2098+86_2098+121delinsGC...
XM_011516186.3:c.2398+86_2398+121delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC	XP_011514488.1:n.2398+86_2398+121delinsGC...
XM_017012195.1:c.2248+86_2248+121delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC	XP_016867684.1:n.2248+86_2248+121delinsGC...
XM_017012196.1:c.2221+86_2221+121delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC	XP_016867685.1:n.2221+86_2221+121delinsGC...
NM_000238.4:c.2398+86_2398+121delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC MANE Select	NP_000229.1:n.2398+86_2398+121delinsGCTGT...
NM_001204798.2:c.1464_1499delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC	NP_001191727.1:p.Gly488=
NM_172057.3:c.1378+86_1378+121delinsGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGC	NP_742054.1:n.1378+86_1378+121delinsGCTGT...