Canonical Allele Identifier: CA2573130154
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1693218
ClinVar RCV Id: RCV002260478
dbSNP Id: rs2135832562
ERepo: CA2573130154/MONDO:0015967/017
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120988886_120988888del , CM000674.2:g.120988886_120988888del GRCh38
NC_000012.11:g.121426689_121426691del , CM000674.1:g.121426689_121426691del GRCh37
NC_000012.10:g.119911072_119911074del NCBI36
NG_011731.2:g.15141_15143del , LRG_522:g.15141_15143del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.380_382del ENSP00000453965.2:p.Asn127del
ENST00000257555.11:c.380_382del MANE Select ENSP00000257555.5:p.Asn127del
ENST00000257555.10:c.380_382del ENSP00000257555.4:p.Asn127del
ENST00000400024.6:c.380_382del ENSP00000476181.1:p.Asn127del
ENST00000402929.5:n.515_517del
ENST00000535955.5:n.43-8605_43-8603del
ENST00000538626.2:n.191-8605_191-8603del
ENST00000538646.5:c.380_382del ENSP00000443964.1:p.Asn127del
ENST00000540108.1:c.327-4634_327-4632del ENSP00000445445.1:n.327-4634_327-4632del
ENST00000541395.5:c.380_382del ENSP00000443112.1:p.Asn127del
ENST00000541924.5:c.380_382del ENSP00000440361.1:p.Asn127del
ENST00000543427.5:c.380_382del ENSP00000439721.2:p.Asn127del
ENST00000544413.2:c.380_382del ENSP00000438804.1:p.Asn127del
ENST00000544574.5:c.73-7731_73-7729del ENSP00000438565.1:n.73-7731_73-7729del
ENST00000560968.5:c.523_525del
ENST00000615446.4:c.-257-7376_-257-7374del ENSP00000483994.1:n.-257-7376_-257-7374del
ENST00000617366.4:c.380_382del ENSP00000481967.1:p.Asn127del
NM_000545.5:c.380_382del , LRG_522t1:c.380_382del NP_000536.5:p.Asn127del
NM_000545.6:c.380_382del NP_000536.5:p.Asn127del
NM_001306179.1:c.380_382del NP_001293108.1:p.Asn127del
XM_005253931.2:c.380_382del XP_005253988.1:p.Asn127del
XM_024449168.1:c.380_382del XP_024304936.1:p.Asn127del
NM_000545.8:c.380_382del MANE Select NP_000536.6:p.Asn127del
NM_001306179.2:c.380_382del NP_001293108.2:p.Asn127del
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