Canonical Allele Identifier: CA1752432047

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948996_150949006delinsACTTGCCAGGC , CM000669.2:g.150948996_150949006delinsACTTGCCAGGC	GRCh38
NC_000007.13:g.150646084_150646094delinsACTTGCCAGGC , CM000669.1:g.150646084_150646094delinsACTTGCCAGGC	GRCh37
NC_000007.12:g.150277017_150277027delinsACTTGCCAGGC	NCBI36
NG_008916.1:g.33921_33931delinsGCCTGGCAAGT , LRG_288:g.33921_33931delinsGCCTGGCAAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3275_3285delinsGCCTGGCAAGT
ENST00000262186.10:c.2442_2452delinsGCCTGGCAAGT MANE Select	ENSP00000262186.5:p.Arg814=
ENST00000330883.9:c.1422_1432delinsGCCTGGCAAGT	ENSP00000328531.4:p.Arg474=
ENST00000262186.9:c.2442_2452delinsGCCTGGCAAGT	ENSP00000262186.5:p.Arg814=
ENST00000330883.8:c.1422_1432delinsGCCTGGCAAGT	ENSP00000328531.4:p.Arg474=
NM_000238.3:c.2442_2452delinsGCCTGGCAAGT , LRG_288t1:c.2442_2452delinsGCCTGGCAAGT	NP_000229.1:p.Arg814=
NM_172057.2:c.1422_1432delinsGCCTGGCAAGT , LRG_288t3:c.1422_1432delinsGCCTGGCAAGT	NP_742054.1:p.Arg474=
XM_011516185.1:c.2142_2152delinsGCCTGGCAAGT	XP_011514487.1:p.Arg714=
XM_011516186.1:c.2442_2452delinsGCCTGGCAAGT	XP_011514488.1:p.Arg814=
XM_011516185.2:c.2142_2152delinsGCCTGGCAAGT	XP_011514487.1:p.Arg714=
XM_011516186.3:c.2442_2452delinsGCCTGGCAAGT	XP_011514488.1:p.Arg814=
XM_017012195.1:c.2292_2302delinsGCCTGGCAAGT	XP_016867684.1:p.Arg764=
XM_017012196.1:c.2265_2275delinsGCCTGGCAAGT	XP_016867685.1:p.Arg755=
NM_000238.4:c.2442_2452delinsGCCTGGCAAGT MANE Select	NP_000229.1:p.Arg814=
NM_172057.3:c.1422_1432delinsGCCTGGCAAGT	NP_742054.1:p.Arg474=