Canonical Allele Identifier: CA1752417079

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957531_150957550delinsAGCAGCCCAGGGCCCCAGGC , CM000669.2:g.150957531_150957550delinsAGCAGCCCAGGGCCCCAGGC	GRCh38
NC_000007.13:g.150654619_150654638delinsAGCAGCCCAGGGCCCCAGGC , CM000669.1:g.150654619_150654638delinsAGCAGCCCAGGGCCCCAGGC	GRCh37
NC_000007.12:g.150285552_150285571delinsAGCAGCCCAGGGCCCCAGGC	NCBI36
NG_008916.1:g.25377_25396delinsGCCTGGGGCCCTGGGCTGCT , LRG_288:g.25377_25396delinsGCCTGGGGCCCTGGGCTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1750-48_1750-29delinsGCCTGGGGCCCTGGGCTGCT
ENST00000262186.10:c.917-48_917-29delinsGCCTGGGGCCCTGGGCTGCT MANE Select	ENSP00000262186.5:n.917-48_917-29delinsGCCTGGGGCCCTGGGCTGCT
ENST00000262186.9:c.917-48_917-29delinsGCCTGGGGCCCTGGGCTGCT	ENSP00000262186.5:n.917-48_917-29delinsGCCTGGGGCCCTGGGCTGCT
ENST00000430723.4:c.569-48_569-29delinsGCCTGGGGCCCTGGGCTGCT	ENSP00000387657.4:n.569-48_569-29delinsGCCTGGGGCCCTGGGCTGCT
ENST00000532957.5:n.1140-48_1140-29delinsGCCTGGGGCCCTGGGCTGCT
NM_000238.3:c.917-48_917-29delinsGCCTGGGGCCCTGGGCTGCT , LRG_288t1:c.917-48_917-29delinsGCCTGGGGCCCTGGGCTGCT	NP_000229.1:n.917-48_917-29delinsGCCTGGGGCCCTGGGCTGCT
NM_172056.2:c.917-48_917-29delinsGCCTGGGGCCCTGGGCTGCT , LRG_288t2:c.917-48_917-29delinsGCCTGGGGCCCTGGGCTGCT	NP_742053.1:n.917-48_917-29delinsGCCTGGGGCCCTGGGCTGCT
XM_011516185.1:c.617-48_617-29delinsGCCTGGGGCCCTGGGCTGCT	XP_011514487.1:n.617-48_617-29delinsGCCTGGGGCCCTGGGCTGCT
XM_011516186.1:c.917-48_917-29delinsGCCTGGGGCCCTGGGCTGCT	XP_011514488.1:n.917-48_917-29delinsGCCTGGGGCCCTGGGCTGCT
XM_011516185.2:c.617-48_617-29delinsGCCTGGGGCCCTGGGCTGCT	XP_011514487.1:n.617-48_617-29delinsGCCTGGGGCCCTGGGCTGCT
XM_011516186.3:c.917-48_917-29delinsGCCTGGGGCCCTGGGCTGCT	XP_011514488.1:n.917-48_917-29delinsGCCTGGGGCCCTGGGCTGCT
XM_017012195.1:c.767-48_767-29delinsGCCTGGGGCCCTGGGCTGCT	XP_016867684.1:n.767-48_767-29delinsGCCTGGGGCCCTGGGCTGCT
XM_017012196.1:c.740-48_740-29delinsGCCTGGGGCCCTGGGCTGCT	XP_016867685.1:n.740-48_740-29delinsGCCTGGGGCCCTGGGCTGCT
NM_000238.4:c.917-48_917-29delinsGCCTGGGGCCCTGGGCTGCT MANE Select	NP_000229.1:n.917-48_917-29delinsGCCTGGGGCCCTGGGCTGCT