Canonical Allele Identifier: CA2695208666

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959665_150959667del , CM000669.2:g.150959665_150959667del	GRCh38
NC_000007.13:g.150656753_150656755del , CM000669.1:g.150656753_150656755del	GRCh37
NC_000007.12:g.150287686_150287688del	NCBI36
NG_008916.1:g.23262_23264del , LRG_288:g.23262_23264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1212_1214del
ENST00000262186.10:c.379_381del MANE Select	ENSP00000262186.5:p.Leu127del
ENST00000262186.9:c.379_381del	ENSP00000262186.5:p.Leu127del
ENST00000430723.4:c.202_204del	ENSP00000387657.4:p.Leu68del
ENST00000532957.5:n.602_604del
NM_000238.3:c.379_381del , LRG_288t1:c.379_381del	NP_000229.1:p.Leu127del
NM_172056.2:c.379_381del , LRG_288t2:c.379_381del	NP_742053.1:p.Leu127del
XM_011516185.1:c.79_81del	XP_011514487.1:p.Leu27del
XM_011516186.1:c.379_381del	XP_011514488.1:p.Leu127del
XM_011516185.2:c.79_81del	XP_011514487.1:p.Leu27del
XM_011516186.3:c.379_381del	XP_011514488.1:p.Leu127del
XM_017012195.1:c.229_231del	XP_016867684.1:p.Leu77del
XM_017012196.1:c.202_204del	XP_016867685.1:p.Leu68del
NM_000238.4:c.379_381del MANE Select	NP_000229.1:p.Leu127del