Canonical Allele Identifier: CA1108705639

Gene: KCNH2

Linked Data

• dbSNP Id: rs2116948118
• gnomAD v3: 7-150950152-GCCCCCCACCCCATACCCA-G
• gnomAD v4: 7-150950152-GCCCCCCACCCCATACCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950153_150950170del , CM000669.2:g.150950153_150950170del	GRCh38
NC_000007.13:g.150647241_150647258del , CM000669.1:g.150647241_150647258del	GRCh37
NC_000007.12:g.150278174_150278191del	NCBI36
NG_008916.1:g.32757_32774del , LRG_288:g.32757_32774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1694_1711del
ENST00000684241.1:n.3229_3231+15del
ENST00000262186.10:c.2396_2398+15del
ENST00000330883.9:c.1376_1378+15del
ENST00000262186.9:c.2396_2398+15del
ENST00000330883.8:c.1376_1378+15del
ENST00000430723.4:c.2048_2065del	ENSP00000387657.4:p.Leu683_Ala689delinsPro
ENST00000461280.1:n.1683_1700del
ENST00000473610.5:n.2028_2045del
ENST00000532957.5:n.2619_2636del
NM_000238.3:c.2396_2398+15del , LRG_288t1:c.2396_2398+15del
NM_001204798.1:c.1376_1393del	NP_001191727.1:p.Leu459_Ala465delinsPro
NM_172056.2:c.2396_2413del , LRG_288t2:c.2396_2413del	NP_742053.1:p.Leu799_Ala805delinsPro
NM_172057.2:c.1376_1378+15del , LRG_288t3:c.1376_1378+15del
XM_011516185.1:c.2096_2098+15del
XM_011516186.1:c.2396_2398+15del
XM_011516185.2:c.2096_2098+15del
XM_011516186.3:c.2396_2398+15del
XM_017012195.1:c.2246_2248+15del
XM_017012196.1:c.2219_2221+15del
NM_000238.4:c.2396_2398+15del
NM_001204798.2:c.1376_1393del	NP_001191727.1:p.Leu459_Ala465delinsPro
NM_172057.3:c.1376_1378+15del