Canonical Allele Identifier: CA1752434497

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951117_150951124delinsAGGGCTGG , CM000669.2:g.150951117_150951124delinsAGGGCTGG	GRCh38
NC_000007.13:g.150648205_150648212delinsAGGGCTGG , CM000669.1:g.150648205_150648212delinsAGGGCTGG	GRCh37
NC_000007.12:g.150279138_150279145delinsAGGGCTGG	NCBI36
NG_008916.1:g.31803_31810delinsCCAGCCCT , LRG_288:g.31803_31810delinsCCAGCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1244-4_1247delinsCCAGCCCT
ENST00000683359.1:n.70-4_73delinsCCAGCCCT
ENST00000684241.1:n.2779-4_2782delinsCCAGCCCT
ENST00000262186.10:c.1946-4_1949delinsCCAGCCCT
ENST00000330883.9:c.926-4_929delinsCCAGCCCT
ENST00000262186.9:c.1946-4_1949delinsCCAGCCCT
ENST00000330883.8:c.926-4_929delinsCCAGCCCT
ENST00000430723.4:c.1598-4_1601delinsCCAGCCCT
ENST00000461280.1:n.1233-4_1236delinsCCAGCCCT
ENST00000473610.5:n.1574_1581delinsCCAGCCCT
ENST00000532957.5:n.2169-4_2172delinsCCAGCCCT
NM_000238.3:c.1946-4_1949delinsCCAGCCCT , LRG_288t1:c.1946-4_1949delinsCCAGCCCT
NM_001204798.1:c.926-4_929delinsCCAGCCCT
NM_172056.2:c.1946-4_1949delinsCCAGCCCT , LRG_288t2:c.1946-4_1949delinsCCAGCCCT
NM_172057.2:c.926-4_929delinsCCAGCCCT , LRG_288t3:c.926-4_929delinsCCAGCCCT
XM_011516185.1:c.1646-4_1649delinsCCAGCCCT
XM_011516186.1:c.1946-4_1949delinsCCAGCCCT
XM_011516185.2:c.1646-4_1649delinsCCAGCCCT
XM_011516186.3:c.1946-4_1949delinsCCAGCCCT
XM_017012195.1:c.1796-4_1799delinsCCAGCCCT
XM_017012196.1:c.1769-4_1772delinsCCAGCCCT
NM_000238.4:c.1946-4_1949delinsCCAGCCCT
NM_001204798.2:c.926-4_929delinsCCAGCCCT
NM_172057.3:c.926-4_929delinsCCAGCCCT