Canonical Allele Identifier: CA2497030023
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1700001
ClinVar RCV Id: RCV002274266 RCV002466752
dbSNP Id: rs2135832632
gnomAD v4: 12-120988909-GA-G
ERepo: CA2497030023/MONDO:0015967/017
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120988910del , CM000674.2:g.120988910del GRCh38
NC_000012.11:g.121426713del , CM000674.1:g.121426713del GRCh37
NC_000012.10:g.119911096del NCBI36
NG_011731.2:g.15165del , LRG_522:g.15165del

Transcript Alleles

HGVS Amino-acid change
ENST00000560968.6:c.404del ENSP00000453965.2:p.Asp135ValfsTer20
ENST00000257555.11:c.404del MANE Select ENSP00000257555.5:p.Asp135ValfsTer20
ENST00000257555.10:c.404del ENSP00000257555.4:p.Asp135ValfsTer20
ENST00000400024.6:c.404del ENSP00000476181.1:p.Asp135ValfsTer20
ENST00000402929.5:n.539del
ENST00000535955.5:n.43-8581del
ENST00000538626.2:n.191-8581del
ENST00000538646.5:c.404del ENSP00000443964.1:p.Asp135ValfsTer20
ENST00000540108.1:c.327-4610del ENSP00000445445.1:n.327-4610del
ENST00000541395.5:c.404del ENSP00000443112.1:p.Asp135ValfsTer20
ENST00000541924.5:c.404del ENSP00000440361.1:p.Asp135ValfsTer20
ENST00000543427.5:c.404del ENSP00000439721.2:p.Asp135ValfsTer20
ENST00000544413.2:c.404del ENSP00000438804.1:p.Asp135ValfsTer20
ENST00000544574.5:c.73-7707del ENSP00000438565.1:n.73-7707del
ENST00000560968.5:c.547del
ENST00000615446.4:c.-257-7352del ENSP00000483994.1:n.-257-7352del
ENST00000617366.4:c.404del ENSP00000481967.1:p.Asp135ValfsTer20
NM_000545.5:c.404del , LRG_522t1:c.404del NP_000536.5:p.Asp135ValfsTer20
NM_000545.6:c.404del NP_000536.5:p.Asp135ValfsTer20
NM_001306179.1:c.404del NP_001293108.1:p.Asp135ValfsTer20
XM_005253931.2:c.404del XP_005253988.1:p.Asp135ValfsTer20
XM_024449168.1:c.404del XP_024304936.1:p.Asp135ValfsTer20
NM_000545.8:c.404del MANE Select NP_000536.6:p.Asp135ValfsTer20
NM_001306179.2:c.404del NP_001293108.2:p.Asp135ValfsTer20
Search 100 bp 5'
Search 100 bp 3'