Canonical Allele Identifier: CA1752418705

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958438_150958463delinsCGACGACTCCCGGGCCGTCAGCGCCA , CM000669.2:g.150958438_150958463delinsCGACGACTCCCGGGCCGTCAGCGCCA	GRCh38
NC_000007.13:g.150655526_150655551delinsCGACGACTCCCGGGCCGTCAGCGCCA , CM000669.1:g.150655526_150655551delinsCGACGACTCCCGGGCCGTCAGCGCCA	GRCh37
NC_000007.12:g.150286459_150286484delinsCGACGACTCCCGGGCCGTCAGCGCCA	NCBI36
NG_008916.1:g.24464_24489delinsTGGCGCTGACGGCCCGGGAGTCGTCG , LRG_288:g.24464_24489delinsTGGCGCTGACGGCCCGGGAGTCGTCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1345_1370delinsTGGCGCTGACGGCCCGGGAGTCGTCG
ENST00000262186.10:c.512_537delinsTGGCGCTGACGGCCCGGGAGTCGTCG MANE Select	ENSP00000262186.5:p.Leu171=
ENST00000262186.9:c.512_537delinsTGGCGCTGACGGCCCGGGAGTCGTCG	ENSP00000262186.5:p.Leu171=
ENST00000430723.4:c.235-71_235-46delinsTGGCGCTGACGGCCCGGGAGTCGTCG	ENSP00000387657.4:n.235-71_235-46delinsTG...
ENST00000532957.5:n.735_760delinsTGGCGCTGACGGCCCGGGAGTCGTCG
NM_000238.3:c.512_537delinsTGGCGCTGACGGCCCGGGAGTCGTCG , LRG_288t1:c.512_537delinsTGGCGCTGACGGCCCGGGAGTCGTCG	NP_000229.1:p.Leu171=
NM_172056.2:c.512_537delinsTGGCGCTGACGGCCCGGGAGTCGTCG , LRG_288t2:c.512_537delinsTGGCGCTGACGGCCCGGGAGTCGTCG	NP_742053.1:p.Leu171=
XM_011516185.1:c.212_237delinsTGGCGCTGACGGCCCGGGAGTCGTCG	XP_011514487.1:p.Leu71=
XM_011516186.1:c.512_537delinsTGGCGCTGACGGCCCGGGAGTCGTCG	XP_011514488.1:p.Leu171=
XM_011516185.2:c.212_237delinsTGGCGCTGACGGCCCGGGAGTCGTCG	XP_011514487.1:p.Leu71=
XM_011516186.3:c.512_537delinsTGGCGCTGACGGCCCGGGAGTCGTCG	XP_011514488.1:p.Leu171=
XM_017012195.1:c.362_387delinsTGGCGCTGACGGCCCGGGAGTCGTCG	XP_016867684.1:p.Leu121=
XM_017012196.1:c.335_360delinsTGGCGCTGACGGCCCGGGAGTCGTCG	XP_016867685.1:p.Leu112=
NM_000238.4:c.512_537delinsTGGCGCTGACGGCCCGGGAGTCGTCG MANE Select	NP_000229.1:p.Leu171=