Canonical Allele Identifier: CA2695208820

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948519_150948523del , CM000669.2:g.150948519_150948523del	GRCh38
NC_000007.13:g.150645607_150645611del , CM000669.1:g.150645607_150645611del	GRCh37
NC_000007.12:g.150276540_150276544del	NCBI36
NG_008916.1:g.34404_34408del , LRG_288:g.34404_34408del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3446_3450del
ENST00000262186.10:c.2613_2617del MANE Select	ENSP00000262186.5:p.Pro872GlnfsTer?
ENST00000330883.9:c.1593_1597del	ENSP00000328531.4:p.Pro532GlnfsTer?
ENST00000262186.9:c.2613_2617del	ENSP00000262186.5:p.Pro872GlnfsTer?
ENST00000330883.8:c.1593_1597del	ENSP00000328531.4:p.Pro532GlnfsTer?
NM_000238.3:c.2613_2617del , LRG_288t1:c.2613_2617del	NP_000229.1:p.Pro872GlnfsTer?
NM_172057.2:c.1593_1597del , LRG_288t3:c.1593_1597del	NP_742054.1:p.Pro532GlnfsTer?
XM_011516185.1:c.2313_2317del	XP_011514487.1:p.Pro772GlnfsTer?
XM_011516186.1:c.2613_2617del	XP_011514488.1:p.Pro872GlnfsTer?
XM_011516185.2:c.2313_2317del	XP_011514487.1:p.Pro772GlnfsTer?
XM_011516186.3:c.2613_2617del	XP_011514488.1:p.Pro872GlnfsTer?
XM_017012195.1:c.2463_2467del	XP_016867684.1:p.Pro822GlnfsTer?
XM_017012196.1:c.2436_2440del	XP_016867685.1:p.Pro813GlnfsTer?
NM_000238.4:c.2613_2617del MANE Select	NP_000229.1:p.Pro872GlnfsTer?
NM_172057.3:c.1593_1597del	NP_742054.1:p.Pro532GlnfsTer?