Canonical Allele Identifier: CA2652972399
Gene: HNF4A HGNC NCBI

Linked Data

gnomAD v4: 20-44413771-CTCCTGCAGGCGGAGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44413777_44413791del , CM000682.2:g.44413777_44413791del GRCh38
NC_000020.10:g.43042417_43042431del , CM000682.1:g.43042417_43042431del GRCh37
NC_000020.9:g.42475831_42475845del NCBI36
NG_009818.1:g.62977_62991del , LRG_483:g.62977_62991del

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.403_417del MANE Select ENSP00000315180.4:p.Gln135_Leu139del
ENST00000316099.10:c.469_483del ENSP00000312987.3:p.Gln157_Leu161del
ENST00000619550.5:c.443_457del
ENST00000683148.1:n.445_459del
ENST00000683657.1:n.1593_1607del
ENST00000316099.9:c.469_483del ENSP00000312987.3:p.Gln157_Leu161del
ENST00000316099.8:c.469_483del ENSP00000312987.3:p.Gln157_Leu161del
ENST00000316673.8:c.403_417del ENSP00000315180.4:p.Gln135_Leu139del
ENST00000372920.1:c.*236_*250del ENSP00000362011.1:n.*236_*250del
ENST00000415691.2:c.469_483del ENSP00000412111.1:p.Gln157_Leu161del
ENST00000443598.6:c.469_483del ENSP00000410911.2:p.Gln157_Leu161del
ENST00000457232.5:c.403_417del ENSP00000396216.1:p.Gln135_Leu139del
ENST00000609795.5:c.403_417del ENSP00000476609.1:p.Gln135_Leu139del
ENST00000619550.4:c.394_408del ENSP00000481331.1:p.Gln132_Leu136del
NM_000457.4:c.469_483del , LRG_483t2:c.469_483del NP_000448.3:p.Gln157_Leu161del
NM_001030003.2:c.403_417del NP_001025174.1:p.Gln135_Leu139del
NM_001030004.2:c.403_417del NP_001025175.1:p.Gln135_Leu139del
NM_001258355.1:c.448_462del NP_001245284.1:p.Gln150_Leu154del
NM_001287182.1:c.394_408del NP_001274111.1:p.Gln132_Leu136del
NM_001287183.1:c.394_408del , LRG_483t3:c.394_408del NP_001274112.1:p.Gln132_Leu136del
NM_001287184.1:c.394_408del NP_001274113.1:p.Gln132_Leu136del
NM_175914.4:c.403_417del , LRG_483t1:c.403_417del NP_787110.2:p.Gln135_Leu139del
NM_178849.2:c.469_483del NP_849180.1:p.Gln157_Leu161del
NM_178850.2:c.469_483del NP_849181.1:p.Gln157_Leu161del
XM_005260407.2:c.586_600del XP_005260464.1:p.Gln196_Leu200del
XM_011528797.1:c.517_531del XP_011527099.1:p.Gln173_Leu177del
XM_011528798.1:c.517_531del XP_011527100.1:p.Gln173_Leu177del
XM_005260407.4:c.586_600del XP_005260464.1:p.Gln196_Leu200del
NM_001030003.3:c.403_417del NP_001025174.1:p.Gln135_Leu139del
NM_001030004.3:c.403_417del NP_001025175.1:p.Gln135_Leu139del
NM_001258355.2:c.448_462del NP_001245284.1:p.Gln150_Leu154del
NM_001287182.2:c.394_408del NP_001274111.1:p.Gln132_Leu136del
NM_001287184.2:c.394_408del NP_001274113.1:p.Gln132_Leu136del
NM_178849.3:c.469_483del NP_849180.1:p.Gln157_Leu161del
NM_178850.3:c.469_483del NP_849181.1:p.Gln157_Leu161del
NM_000457.5:c.469_483del NP_000448.3:p.Gln157_Leu161del
NM_000457.6:c.469_483del NP_000448.3:p.Gln157_Leu161del
NM_001287183.2:c.394_408del NP_001274112.1:p.Gln132_Leu136del
NM_175914.5:c.403_417del MANE Select NP_787110.2:p.Gln135_Leu139del
Search 100 bp 5'
Search 100 bp 3'