Canonical Allele Identifier: CA1752417592

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957994_150957995delinsAT , CM000669.2:g.150957994_150957995delinsAT	GRCh38
NC_000007.13:g.150655082_150655083delinsAT , CM000669.1:g.150655082_150655083delinsAT	GRCh37
NC_000007.12:g.150286015_150286016delinsAT	NCBI36
NG_008916.1:g.24932_24933delinsAT , LRG_288:g.24932_24933delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1749+64_1749+65delinsAT
ENST00000262186.10:c.916+64_916+65delinsAT MANE Select	ENSP00000262186.5:n.916+64_916+65delinsAT...
ENST00000262186.9:c.916+64_916+65delinsAT	ENSP00000262186.5:n.916+64_916+65delinsAT...
ENST00000430723.4:c.568+64_568+65delinsAT	ENSP00000387657.4:n.568+64_568+65delinsAT...
ENST00000532957.5:n.1139+64_1139+65delinsAT
NM_000238.3:c.916+64_916+65delinsAT , LRG_288t1:c.916+64_916+65delinsAT	NP_000229.1:n.916+64_916+65delinsAT
NM_172056.2:c.916+64_916+65delinsAT , LRG_288t2:c.916+64_916+65delinsAT	NP_742053.1:n.916+64_916+65delinsAT
XM_011516185.1:c.616+64_616+65delinsAT	XP_011514487.1:n.616+64_616+65delinsAT
XM_011516186.1:c.916+64_916+65delinsAT	XP_011514488.1:n.916+64_916+65delinsAT
XM_011516185.2:c.616+64_616+65delinsAT	XP_011514487.1:n.616+64_616+65delinsAT
XM_011516186.3:c.916+64_916+65delinsAT	XP_011514488.1:n.916+64_916+65delinsAT
XM_017012195.1:c.766+64_766+65delinsAT	XP_016867684.1:n.766+64_766+65delinsAT
XM_017012196.1:c.739+64_739+65delinsAT	XP_016867685.1:n.739+64_739+65delinsAT
NM_000238.4:c.916+64_916+65delinsAT MANE Select	NP_000229.1:n.916+64_916+65delinsAT