Canonical Allele Identifier: CA645587990
Gene: HNF1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993659_120993660dup , CM000674.2:g.120993659_120993660dup GRCh38
NC_000012.11:g.121431462_121431463dup , CM000674.1:g.121431462_121431463dup GRCh37
NC_000012.10:g.119915845_119915846dup NCBI36
NG_011731.2:g.19914_19915dup , LRG_522:g.19914_19915dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.666_667dup ENSP00000453965.2:p.Asn223ArgfsTer11
ENST00000257555.11:c.666_667dup MANE Select ENSP00000257555.5:p.Asn223ArgfsTer11
ENST00000257555.10:c.666_667dup ENSP00000257555.4:p.Asn223ArgfsTer11
ENST00000400024.6:c.666_667dup ENSP00000476181.1:p.Asn223ArgfsTer11
ENST00000402929.5:n.801_802dup
ENST00000535955.5:n.43-3832_43-3831dup
ENST00000538626.2:n.191-3832_191-3831dup
ENST00000538646.5:c.527-505_527-504dup ENSP00000443964.1:n.527-505_527-504dup
ENST00000540108.1:c.*106_*107dup ENSP00000445445.1:n.*106_*107dup
ENST00000541395.5:c.666_667dup ENSP00000443112.1:p.Asn223ArgfsTer11
ENST00000541924.5:c.666_667dup ENSP00000440361.1:p.Asn223ArgfsTer11
ENST00000543427.5:c.633+33_633+34dup ENSP00000439721.2:n.633+33_633+34dup
ENST00000544413.2:c.666_667dup ENSP00000438804.1:p.Asn223ArgfsTer11
ENST00000544574.5:c.73-2958_73-2957dup ENSP00000438565.1:n.73-2958_73-2957dup
ENST00000560968.5:c.809_810dup
ENST00000615446.4:c.-257-2603_-257-2602dup ENSP00000483994.1:n.-257-2603_-257-2602dup
ENST00000617366.4:c.586+80_586+81dup ENSP00000481967.1:n.586+80_586+81dup
NM_000545.5:c.666_667dup , LRG_522t1:c.666_667dup NP_000536.5:p.Asn223ArgfsTer11
NM_000545.6:c.666_667dup NP_000536.5:p.Asn223ArgfsTer11
NM_001306179.1:c.666_667dup NP_001293108.1:p.Asn223ArgfsTer11
XM_005253931.2:c.666_667dup XP_005253988.1:p.Asn223ArgfsTer11
XM_024449168.1:c.666_667dup XP_024304936.1:p.Asn223ArgfsTer11
NM_000545.8:c.666_667dup MANE Select NP_000536.6:p.Asn223ArgfsTer11
NM_001306179.2:c.666_667dup NP_001293108.2:p.Asn223ArgfsTer11