Canonical Allele Identifier: CA2652972384
Gene: HNF4A HGNC NCBI

Linked Data

gnomAD v4: 20-44413673-CCT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44413678_44413679del , CM000682.2:g.44413678_44413679del GRCh38
NC_000020.10:g.43042318_43042319del , CM000682.1:g.43042318_43042319del GRCh37
NC_000020.9:g.42475732_42475733del NCBI36
NG_009818.1:g.62878_62879del , LRG_483:g.62878_62879del

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.320-16_320-15del MANE Select ENSP00000315180.4:n.320-16_320-15del
ENST00000316099.10:c.386-16_386-15del ENSP00000312987.3:n.386-16_386-15del
ENST00000619550.5:c.360-16_360-15del
ENST00000683148.1:n.362-16_362-15del
ENST00000683657.1:n.1510-16_1510-15del
ENST00000316099.9:c.386-16_386-15del ENSP00000312987.3:n.386-16_386-15del
ENST00000316099.8:c.386-16_386-15del ENSP00000312987.3:n.386-16_386-15del
ENST00000316673.8:c.320-16_320-15del ENSP00000315180.4:n.320-16_320-15del
ENST00000372920.1:c.*153-16_*153-15del ENSP00000362011.1:n.*153-16_*153-15del
ENST00000415691.2:c.386-16_386-15del ENSP00000412111.1:n.386-16_386-15del
ENST00000443598.6:c.386-16_386-15del ENSP00000410911.2:n.386-16_386-15del
ENST00000457232.5:c.320-16_320-15del ENSP00000396216.1:n.320-16_320-15del
ENST00000609795.5:c.320-16_320-15del ENSP00000476609.1:n.320-16_320-15del
ENST00000619550.4:c.311-16_311-15del ENSP00000481331.1:n.311-16_311-15del
NM_000457.4:c.386-16_386-15del , LRG_483t2:c.386-16_386-15del NP_000448.3:n.386-16_386-15del
NM_001030003.2:c.320-16_320-15del NP_001025174.1:n.320-16_320-15del
NM_001030004.2:c.320-16_320-15del NP_001025175.1:n.320-16_320-15del
NM_001258355.1:c.365-16_365-15del NP_001245284.1:n.365-16_365-15del
NM_001287182.1:c.311-16_311-15del NP_001274111.1:n.311-16_311-15del
NM_001287183.1:c.311-16_311-15del , LRG_483t3:c.311-16_311-15del NP_001274112.1:n.311-16_311-15del
NM_001287184.1:c.311-16_311-15del NP_001274113.1:n.311-16_311-15del
NM_175914.4:c.320-16_320-15del , LRG_483t1:c.320-16_320-15del NP_787110.2:n.320-16_320-15del
NM_178849.2:c.386-16_386-15del NP_849180.1:n.386-16_386-15del
NM_178850.2:c.386-16_386-15del NP_849181.1:n.386-16_386-15del
XM_005260407.2:c.503-16_503-15del XP_005260464.1:n.503-16_503-15del
XM_011528797.1:c.434-16_434-15del XP_011527099.1:n.434-16_434-15del
XM_011528798.1:c.434-16_434-15del XP_011527100.1:n.434-16_434-15del
XM_005260407.4:c.503-16_503-15del XP_005260464.1:n.503-16_503-15del
NM_001030003.3:c.320-16_320-15del NP_001025174.1:n.320-16_320-15del
NM_001030004.3:c.320-16_320-15del NP_001025175.1:n.320-16_320-15del
NM_001258355.2:c.365-16_365-15del NP_001245284.1:n.365-16_365-15del
NM_001287182.2:c.311-16_311-15del NP_001274111.1:n.311-16_311-15del
NM_001287184.2:c.311-16_311-15del NP_001274113.1:n.311-16_311-15del
NM_178849.3:c.386-16_386-15del NP_849180.1:n.386-16_386-15del
NM_178850.3:c.386-16_386-15del NP_849181.1:n.386-16_386-15del
NM_000457.5:c.386-16_386-15del NP_000448.3:n.386-16_386-15del
NM_000457.6:c.386-16_386-15del NP_000448.3:n.386-16_386-15del
NM_001287183.2:c.311-16_311-15del NP_001274112.1:n.311-16_311-15del
NM_175914.5:c.320-16_320-15del MANE Select NP_787110.2:n.320-16_320-15del
Search 100 bp 5'
Search 100 bp 3'