Canonical Allele Identifier: CA1752419952

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959638_150959641delinsCCTT , CM000669.2:g.150959638_150959641delinsCCTT	GRCh38
NC_000007.13:g.150656726_150656729delinsCCTT , CM000669.1:g.150656726_150656729delinsCCTT	GRCh37
NC_000007.12:g.150287659_150287662delinsCCTT	NCBI36
NG_008916.1:g.23286_23289delinsAAGG , LRG_288:g.23286_23289delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1236_1239delinsAAGG
ENST00000262186.10:c.403_406delinsAAGG MANE Select	ENSP00000262186.5:p.Lys135=
ENST00000262186.9:c.403_406delinsAAGG	ENSP00000262186.5:p.Lys135=
ENST00000430723.4:c.226_229delinsAAGG	ENSP00000387657.4:p.Lys76=
ENST00000532957.5:n.626_629delinsAAGG
NM_000238.3:c.403_406delinsAAGG , LRG_288t1:c.403_406delinsAAGG	NP_000229.1:p.Lys135=
NM_172056.2:c.403_406delinsAAGG , LRG_288t2:c.403_406delinsAAGG	NP_742053.1:p.Lys135=
XM_011516185.1:c.103_106delinsAAGG	XP_011514487.1:p.Lys35=
XM_011516186.1:c.403_406delinsAAGG	XP_011514488.1:p.Lys135=
XM_011516185.2:c.103_106delinsAAGG	XP_011514487.1:p.Lys35=
XM_011516186.3:c.403_406delinsAAGG	XP_011514488.1:p.Lys135=
XM_017012195.1:c.253_256delinsAAGG	XP_016867684.1:p.Lys85=
XM_017012196.1:c.226_229delinsAAGG	XP_016867685.1:p.Lys76=
NM_000238.4:c.403_406delinsAAGG MANE Select	NP_000229.1:p.Lys135=