Canonical Allele Identifier: CA2573051298
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 14944
ClinVar RCV Id: RCV000016082
dbSNP Id: rs2135839114
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993580_120993583del , CM000674.2:g.120993580_120993583del GRCh38
NC_000012.11:g.121431383_121431386del , CM000674.1:g.121431383_121431386del GRCh37
NC_000012.10:g.119915766_119915769del NCBI36
NG_011731.2:g.19835_19838del , LRG_522:g.19835_19838del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.587_590del ENSP00000453965.2:p.Thr196ArgfsTer?
ENST00000257555.11:c.587_590del MANE Select ENSP00000257555.5:p.Thr196ArgfsTer?
ENST00000257555.10:c.587_590del ENSP00000257555.4:p.Thr196ArgfsTer?
ENST00000400024.6:c.587_590del ENSP00000476181.1:p.Thr196ArgfsTer?
ENST00000402929.5:n.722_725del
ENST00000535955.5:n.43-3911_43-3908del
ENST00000538626.2:n.191-3911_191-3908del
ENST00000538646.5:c.527-584_527-581del ENSP00000443964.1:n.527-584_527-581del
ENST00000540108.1:c.*27_*30del ENSP00000445445.1:n.*27_*30del
ENST00000541395.5:c.587_590del ENSP00000443112.1:p.Thr196ArgfsTer?
ENST00000541924.5:c.587_590del ENSP00000440361.1:p.Thr196ArgfsTer?
ENST00000543427.5:c.587_590del ENSP00000439721.2:p.Thr196ArgfsTer?
ENST00000544413.2:c.587_590del ENSP00000438804.1:p.Thr196ArgfsTer?
ENST00000544574.5:c.73-3037_73-3034del ENSP00000438565.1:n.73-3037_73-3034del
ENST00000560968.5:c.730_733del
ENST00000615446.4:c.-257-2682_-257-2679del ENSP00000483994.1:n.-257-2682_-257-2679del
ENST00000617366.4:c.586+1_586+4del
NM_000545.5:c.587_590del , LRG_522t1:c.587_590del NP_000536.5:p.Thr196ArgfsTer?
NM_000545.6:c.587_590del NP_000536.5:p.Thr196ArgfsTer?
NM_001306179.1:c.587_590del NP_001293108.1:p.Thr196ArgfsTer?
XM_005253931.2:c.587_590del XP_005253988.1:p.Thr196ArgfsTer?
XM_024449168.1:c.587_590del XP_024304936.1:p.Thr196ArgfsTer?
NM_000545.8:c.587_590del MANE Select NP_000536.6:p.Thr196ArgfsTer?
NM_001306179.2:c.587_590del NP_001293108.2:p.Thr196ArgfsTer?
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