This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA2652972763
Community Standard Title: NM_175914.5(HNF4A):c.583-136del
Gene: HNF4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44418289del , CM000682.2:g.44418289del GRCh38
NC_000020.10:g.43046929del , CM000682.1:g.43046929del GRCh37
NC_000020.9:g.42480343del NCBI36
NG_009818.1:g.67489del , LRG_483:g.67489del

Transcript Alleles

HGVS Amino-acid Change
NM_175914.5:c.583-136del MANE Select NP_787110.2:n.583-136del
ENST00000316673.9:c.583-136del MANE Select ENSP00000315180.4:n.583-136del
NM_000457.4:c.649-136del , LRG_483t2:c.649-136del NP_000448.3:n.649-136del
NM_000457.5:c.649-136del NP_000448.3:n.649-136del
NM_000457.6:c.649-136del NP_000448.3:n.649-136del
NM_001030003.2:c.583-136del NP_001025174.1:n.583-136del
NM_001030003.3:c.583-136del NP_001025174.1:n.583-136del
NM_001030004.2:c.583-136del NP_001025175.1:n.583-136del
NM_001030004.3:c.583-136del NP_001025175.1:n.583-136del
NM_001258355.1:c.628-136del NP_001245284.1:n.628-136del
NM_001258355.2:c.628-136del NP_001245284.1:n.628-136del
NM_001287182.1:c.574-136del NP_001274111.1:n.574-136del
NM_001287182.2:c.574-136del NP_001274111.1:n.574-136del
NM_001287183.1:c.574-136del , LRG_483t3:c.574-136del NP_001274112.1:n.574-136del
NM_001287183.2:c.574-136del NP_001274112.1:n.574-136del
NM_001287184.1:c.574-136del NP_001274113.1:n.574-136del
NM_001287184.2:c.574-136del NP_001274113.1:n.574-136del
NM_175914.4:c.583-136del , LRG_483t1:c.583-136del NP_787110.2:n.583-136del
NM_178849.2:c.649-136del NP_849180.1:n.649-136del
NM_178849.3:c.649-136del NP_849180.1:n.649-136del
NM_178850.2:c.649-136del NP_849181.1:n.649-136del
NM_178850.3:c.649-136del NP_849181.1:n.649-136del
ENST00000316099.10:c.649-136del ENSP00000312987.3:n.649-136del
ENST00000316099.8:c.649-136del ENSP00000312987.3:n.649-136del
ENST00000316099.9:c.649-136del ENSP00000312987.3:n.649-136del
ENST00000316673.8:c.583-136del ENSP00000315180.4:n.583-136del
ENST00000372920.1:c.*416-136del ENSP00000362011.1:n.*416-136del
ENST00000415691.2:c.649-136del ENSP00000412111.1:n.649-136del
ENST00000443598.6:c.649-136del ENSP00000410911.2:n.649-136del
ENST00000457232.5:c.583-136del ENSP00000396216.1:n.583-136del
ENST00000609795.5:c.583-136del ENSP00000476609.1:n.583-136del
ENST00000619550.4:c.574-136del ENSP00000481331.1:n.574-136del
ENST00000619550.5:c.623-136del
ENST00000683148.1:n.625-136del
ENST00000683657.1:n.1773-136del
XM_005260407.2:c.766-136del XP_005260464.1:n.766-136del
XM_005260407.4:c.766-136del XP_005260464.1:n.766-136del
XM_011528797.1:c.697-136del XP_011527099.1:n.697-136del
XM_011528798.1:c.697-136del XP_011527100.1:n.697-136del
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