Canonical Allele Identifier: CA2695229803
Gene: HNF4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44424156del , CM000682.2:g.44424156del GRCh38
NC_000020.10:g.43052796del , CM000682.1:g.43052796del GRCh37
NC_000020.9:g.42486210del NCBI36
NG_009818.1:g.73356del , LRG_483:g.73356del

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.965del MANE Select ENSP00000315180.4:p.Leu322CysfsTer8
ENST00000316099.10:c.1031del ENSP00000312987.3:p.Leu344CysfsTer8
ENST00000619550.5:c.1005del
ENST00000316099.9:c.1031del ENSP00000312987.3:p.Leu344CysfsTer8
ENST00000316099.8:c.1031del ENSP00000312987.3:p.Leu344CysfsTer8
ENST00000316673.8:c.965del ENSP00000315180.4:p.Leu322CysfsTer8
ENST00000372920.1:c.*798del ENSP00000362011.1:n.*798del
ENST00000415691.2:c.1031del ENSP00000412111.1:p.Leu344CysfsTer8
ENST00000443598.6:c.1031del ENSP00000410911.2:p.Leu344CysfsTer8
ENST00000457232.5:c.965del ENSP00000396216.1:p.Leu322CysfsTer8
ENST00000609795.5:c.965del ENSP00000476609.1:p.Leu322CysfsTer8
ENST00000619550.4:c.956del ENSP00000481331.1:p.Leu319CysfsTer8
NM_000457.4:c.1031del , LRG_483t2:c.1031del NP_000448.3:p.Leu344CysfsTer8
NM_001030003.2:c.965del NP_001025174.1:p.Leu322CysfsTer8
NM_001030004.2:c.965del NP_001025175.1:p.Leu322CysfsTer8
NM_001258355.1:c.1010del NP_001245284.1:p.Leu337CysfsTer8
NM_001287182.1:c.956del NP_001274111.1:p.Leu319CysfsTer8
NM_001287183.1:c.956del , LRG_483t3:c.956del NP_001274112.1:p.Leu319CysfsTer8
NM_001287184.1:c.956del NP_001274113.1:p.Leu319CysfsTer8
NM_175914.4:c.965del , LRG_483t1:c.965del NP_787110.2:p.Leu322CysfsTer8
NM_178849.2:c.1031del NP_849180.1:p.Leu344CysfsTer8
NM_178850.2:c.1031del NP_849181.1:p.Leu344CysfsTer8
XM_005260407.2:c.1148del XP_005260464.1:p.Leu383CysfsTer8
XM_011528797.1:c.1079del XP_011527099.1:p.Leu360CysfsTer8
XM_011528798.1:c.1079del XP_011527100.1:p.Leu360CysfsTer8
XM_005260407.4:c.1148del XP_005260464.1:p.Leu383CysfsTer8
NM_001030003.3:c.965del NP_001025174.1:p.Leu322CysfsTer8
NM_001030004.3:c.965del NP_001025175.1:p.Leu322CysfsTer8
NM_001258355.2:c.1010del NP_001245284.1:p.Leu337CysfsTer8
NM_001287182.2:c.956del NP_001274111.1:p.Leu319CysfsTer8
NM_001287184.2:c.956del NP_001274113.1:p.Leu319CysfsTer8
NM_178849.3:c.1031del NP_849180.1:p.Leu344CysfsTer8
NM_178850.3:c.1031del NP_849181.1:p.Leu344CysfsTer8
NM_000457.5:c.1031del NP_000448.3:p.Leu344CysfsTer8
NM_000457.6:c.1031del NP_000448.3:p.Leu344CysfsTer8
NM_001287183.2:c.956del NP_001274112.1:p.Leu319CysfsTer8
NM_175914.5:c.965del MANE Select NP_787110.2:p.Leu322CysfsTer8