Canonical Allele Identifier: CA1752415038

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955730_150955736delinsATGGCCC , CM000669.2:g.150955730_150955736delinsATGGCCC	GRCh38
NC_000007.13:g.150652818_150652824delinsATGGCCC , CM000669.1:g.150652818_150652824delinsATGGCCC	GRCh37
NC_000007.12:g.150283751_150283757delinsATGGCCC	NCBI36
NG_008916.1:g.27191_27197delinsGGGCCAT , LRG_288:g.27191_27197delinsGGGCCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.86_92delinsGGGCCAT
ENST00000684241.1:n.1961+1555_1961+1561delinsGGGCCAT
ENST00000262186.10:c.1128+1555_1128+1561delinsGGGCCAT MANE Select	ENSP00000262186.5:n.1128+1555_1128+1561delinsGGGCCAT
ENST00000330883.9:c.-233_-227delinsGGGCCAT	ENSP00000328531.4:n.-233_-227delinsGGGCCAT
ENST00000262186.9:c.1128+1555_1128+1561delinsGGGCCAT	ENSP00000262186.5:n.1128+1555_1128+1561delinsGGGCCAT
ENST00000330883.8:c.-233_-227delinsGGGCCAT	ENSP00000328531.4:n.-233_-227delinsGGGCCAT
ENST00000430723.4:c.780+1555_780+1561delinsGGGCCAT	ENSP00000387657.4:n.780+1555_780+1561delinsGGGCCAT
ENST00000461280.1:n.75_81delinsGGGCCAT
ENST00000473610.5:n.93_99delinsGGGCCAT
ENST00000532957.5:n.1351+1555_1351+1561delinsGGGCCAT
NM_000238.3:c.1128+1555_1128+1561delinsGGGCCAT , LRG_288t1:c.1128+1555_1128+1561delinsGGGCCAT	NP_000229.1:n.1128+1555_1128+1561delinsGGGCCAT
NM_001204798.1:c.-233_-227delinsGGGCCAT	NP_001191727.1:n.-233_-227delinsGGGCCAT
NM_172056.2:c.1128+1555_1128+1561delinsGGGCCAT , LRG_288t2:c.1128+1555_1128+1561delinsGGGCCAT	NP_742053.1:n.1128+1555_1128+1561delinsGGGCCAT
NM_172057.2:c.-233_-227delinsGGGCCAT , LRG_288t3:c.-233_-227delinsGGGCCAT	NP_742054.1:n.-233_-227delinsGGGCCAT
XM_011516185.1:c.828+1555_828+1561delinsGGGCCAT	XP_011514487.1:n.828+1555_828+1561delinsGGGCCAT
XM_011516186.1:c.1128+1555_1128+1561delinsGGGCCAT	XP_011514488.1:n.1128+1555_1128+1561delinsGGGCCAT
XM_011516185.2:c.828+1555_828+1561delinsGGGCCAT	XP_011514487.1:n.828+1555_828+1561delinsGGGCCAT
XM_011516186.3:c.1128+1555_1128+1561delinsGGGCCAT	XP_011514488.1:n.1128+1555_1128+1561delinsGGGCCAT
XM_017012195.1:c.978+1555_978+1561delinsGGGCCAT	XP_016867684.1:n.978+1555_978+1561delinsGGGCCAT
XM_017012196.1:c.951+1555_951+1561delinsGGGCCAT	XP_016867685.1:n.951+1555_951+1561delinsGGGCCAT
NM_000238.4:c.1128+1555_1128+1561delinsGGGCCAT MANE Select	NP_000229.1:n.1128+1555_1128+1561delinsGGGCCAT
NM_001204798.2:c.-233_-227delinsGGGCCAT	NP_001191727.1:n.-233_-227delinsGGGCCAT
NM_172057.3:c.-233_-227delinsGGGCCAT	NP_742054.1:n.-233_-227delinsGGGCCAT