Canonical Allele Identifier: CA1752446261
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977836_150977838delinsACT , CM000669.2:g.150977836_150977838delinsACT GRCh38
NC_000007.13:g.150674924_150674926delinsACT , CM000669.1:g.150674924_150674926delinsACT GRCh37
NC_000007.12:g.150305857_150305859delinsACT NCBI36
NG_008916.1:g.5089_5091delinsAGT , LRG_288:g.5089_5091delinsAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.76_76+2delinsAGT
ENST00000262186.9:c.76_76+2delinsAGT
ENST00000430723.4:c.-102_-102+2delinsAGT
ENST00000532957.5:n.299_299+2delinsAGT
NM_000238.3:c.76_76+2delinsAGT , LRG_288t1:c.76_76+2delinsAGT
NM_172056.2:c.76_76+2delinsAGT , LRG_288t2:c.76_76+2delinsAGT
XM_011516186.1:c.76_76+2delinsAGT
XM_011516186.3:c.76_76+2delinsAGT
NM_000238.4:c.76_76+2delinsAGT