Canonical Allele Identifier: CA2695208809

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947846_150947849delinsTTG , CM000669.2:g.150947846_150947849delinsTTG	GRCh38
NC_000007.13:g.150644934_150644937delinsTTG , CM000669.1:g.150644934_150644937delinsTTG	GRCh37
NC_000007.12:g.150275867_150275870delinsTTG	NCBI36
NG_008916.1:g.35078_35081delinsCAA , LRG_288:g.35078_35081delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3555_3558delinsCAA
ENST00000262186.10:c.2722_2725delinsCAA MANE Select	ENSP00000262186.5:p.Leu908GlnfsTer?
ENST00000330883.9:c.1702_1705delinsCAA	ENSP00000328531.4:p.Leu568GlnfsTer?
ENST00000262186.9:c.2722_2725delinsCAA	ENSP00000262186.5:p.Leu908GlnfsTer?
ENST00000330883.8:c.1702_1705delinsCAA	ENSP00000328531.4:p.Leu568GlnfsTer?
NM_000238.3:c.2722_2725delinsCAA , LRG_288t1:c.2722_2725delinsCAA	NP_000229.1:p.Leu908GlnfsTer?
NM_172057.2:c.1702_1705delinsCAA , LRG_288t3:c.1702_1705delinsCAA	NP_742054.1:p.Leu568GlnfsTer?
XM_011516185.1:c.2422_2425delinsCAA	XP_011514487.1:p.Leu808GlnfsTer?
XM_011516186.1:c.2693-158_2693-155delinsCAA	XP_011514488.1:n.2693-158_2693-155delinsCAA
XM_011516185.2:c.2422_2425delinsCAA	XP_011514487.1:p.Leu808GlnfsTer?
XM_011516186.3:c.2693-158_2693-155delinsCAA	XP_011514488.1:n.2693-158_2693-155delinsCAA
XM_017012195.1:c.2572_2575delinsCAA	XP_016867684.1:p.Leu858GlnfsTer?
XM_017012196.1:c.2545_2548delinsCAA	XP_016867685.1:p.Leu849GlnfsTer?
NM_000238.4:c.2722_2725delinsCAA MANE Select	NP_000229.1:p.Leu908GlnfsTer?
NM_172057.3:c.1702_1705delinsCAA	NP_742054.1:p.Leu568GlnfsTer?