Canonical Allele Identifier: CA2567851703

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948989_150948990insTAAAAAA , CM000669.2:g.150948989_150948990insTAAAAAA	GRCh38
NC_000007.13:g.150646077_150646078insTAAAAAA , CM000669.1:g.150646077_150646078insTAAAAAA	GRCh37
NC_000007.12:g.150277010_150277011insTAAAAAA	NCBI36
NG_008916.1:g.33937_33938insTTTTTTA , LRG_288:g.33937_33938insTTTTTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3291_3292insTTTTTTA
ENST00000262186.10:c.2458_2459insTTTTTTA MANE Select	ENSP00000262186.5:p.Gly820ValfsTer3
ENST00000330883.9:c.1438_1439insTTTTTTA	ENSP00000328531.4:p.Gly480ValfsTer3
ENST00000262186.9:c.2458_2459insTTTTTTA	ENSP00000262186.5:p.Gly820ValfsTer3
ENST00000330883.8:c.1438_1439insTTTTTTA	ENSP00000328531.4:p.Gly480ValfsTer3
NM_000238.3:c.2458_2459insTTTTTTA , LRG_288t1:c.2458_2459insTTTTTTA	NP_000229.1:p.Gly820ValfsTer3
NM_172057.2:c.1438_1439insTTTTTTA , LRG_288t3:c.1438_1439insTTTTTTA	NP_742054.1:p.Gly480ValfsTer3
XM_011516185.1:c.2158_2159insTTTTTTA	XP_011514487.1:p.Gly720ValfsTer3
XM_011516186.1:c.2458_2459insTTTTTTA	XP_011514488.1:p.Gly820ValfsTer3
XM_011516185.2:c.2158_2159insTTTTTTA	XP_011514487.1:p.Gly720ValfsTer3
XM_011516186.3:c.2458_2459insTTTTTTA	XP_011514488.1:p.Gly820ValfsTer3
XM_017012195.1:c.2308_2309insTTTTTTA	XP_016867684.1:p.Gly770ValfsTer3
XM_017012196.1:c.2281_2282insTTTTTTA	XP_016867685.1:p.Gly761ValfsTer3
NM_000238.4:c.2458_2459insTTTTTTA MANE Select	NP_000229.1:p.Gly820ValfsTer3
NM_172057.3:c.1438_1439insTTTTTTA	NP_742054.1:p.Gly480ValfsTer3