Canonical Allele Identifier: CA2695208743

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952709_150952710del , CM000669.2:g.150952709_150952710del	GRCh38
NC_000007.13:g.150649797_150649798del , CM000669.1:g.150649797_150649798del	GRCh37
NC_000007.12:g.150280730_150280731del	NCBI36
NG_008916.1:g.30220_30221del , LRG_288:g.30220_30221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.573_574del
ENST00000684116.1:n.168_169del
ENST00000684241.1:n.2108_2109del
ENST00000262186.10:c.1275_1276del MANE Select	ENSP00000262186.5:p.Pro426LeufsTer?
ENST00000330883.9:c.255_256del	ENSP00000328531.4:p.Pro86LeufsTer?
ENST00000262186.9:c.1275_1276del	ENSP00000262186.5:p.Pro426LeufsTer?
ENST00000330883.8:c.255_256del	ENSP00000328531.4:p.Pro86LeufsTer?
ENST00000430723.4:c.927_928del	ENSP00000387657.4:p.Pro310LeufsTer?
ENST00000461280.1:n.562_563del
ENST00000473610.5:n.580_581del
ENST00000532957.5:n.1498_1499del
NM_000238.3:c.1275_1276del , LRG_288t1:c.1275_1276del	NP_000229.1:p.Pro426LeufsTer?
NM_001204798.1:c.255_256del	NP_001191727.1:p.Pro86LeufsTer?
NM_172056.2:c.1275_1276del , LRG_288t2:c.1275_1276del	NP_742053.1:p.Pro426LeufsTer?
NM_172057.2:c.255_256del , LRG_288t3:c.255_256del	NP_742054.1:p.Pro86LeufsTer?
XM_011516185.1:c.975_976del	XP_011514487.1:p.Pro326LeufsTer?
XM_011516186.1:c.1275_1276del	XP_011514488.1:p.Pro426LeufsTer?
XM_011516185.2:c.975_976del	XP_011514487.1:p.Pro326LeufsTer?
XM_011516186.3:c.1275_1276del	XP_011514488.1:p.Pro426LeufsTer?
XM_017012195.1:c.1125_1126del	XP_016867684.1:p.Pro376LeufsTer?
XM_017012196.1:c.1098_1099del	XP_016867685.1:p.Pro367LeufsTer?
NM_000238.4:c.1275_1276del MANE Select	NP_000229.1:p.Pro426LeufsTer?
NM_001204798.2:c.255_256del	NP_001191727.1:p.Pro86LeufsTer?
NM_172057.3:c.255_256del	NP_742054.1:p.Pro86LeufsTer?