Canonical Allele Identifier: CA2067678440
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993672_120993676delinsGAGGA , CM000674.2:g.120993672_120993676delinsGAGGA GRCh38
NC_000012.11:g.121431475_121431479delinsGAGGA , CM000674.1:g.121431475_121431479delinsGAGGA GRCh37
NC_000012.10:g.119915858_119915862delinsGAGGA NCBI36
NG_011731.2:g.19927_19931delinsGAGGA , LRG_522:g.19927_19931delinsGAGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.679_683delinsGAGGA ENSP00000453965.2:p.Glu227=
ENST00000257555.11:c.679_683delinsGAGGA MANE Select ENSP00000257555.5:p.Glu227=
ENST00000257555.10:c.679_683delinsGAGGA ENSP00000257555.4:p.Glu227=
ENST00000400024.6:c.679_683delinsGAGGA ENSP00000476181.1:p.Glu227=
ENST00000402929.5:n.814_818delinsGAGGA
ENST00000535955.5:n.43-3819_43-3815delinsGAGGA
ENST00000538626.2:n.191-3819_191-3815delinsGAGGA
ENST00000538646.5:c.527-492_527-488delinsGAGGA ENSP00000443964.1:n.527-492_527-488delinsGAGGA
ENST00000540108.1:c.*119_*123delinsGAGGA ENSP00000445445.1:n.*119_*123delinsGAGGA
ENST00000541395.5:c.679_683delinsGAGGA ENSP00000443112.1:p.Glu227=
ENST00000541924.5:c.679_683delinsGAGGA ENSP00000440361.1:p.Glu227=
ENST00000543427.5:c.633+46_633+50delinsGAGGA ENSP00000439721.2:n.633+46_633+50delinsGAGGA
ENST00000544413.2:c.679_683delinsGAGGA ENSP00000438804.1:p.Glu227=
ENST00000544574.5:c.73-2945_73-2941delinsGAGGA ENSP00000438565.1:n.73-2945_73-2941delinsGAGGA
ENST00000560968.5:c.822_826delinsGAGGA
ENST00000615446.4:c.-257-2590_-257-2586delinsGAGGA ENSP00000483994.1:n.-257-2590_-257-2586delinsGAGGA
ENST00000617366.4:c.586+93_586+97delinsGAGGA ENSP00000481967.1:n.586+93_586+97delinsGAGGA
NM_000545.5:c.679_683delinsGAGGA , LRG_522t1:c.679_683delinsGAGGA NP_000536.5:p.Glu227=
NM_000545.6:c.679_683delinsGAGGA NP_000536.5:p.Glu227=
NM_001306179.1:c.679_683delinsGAGGA NP_001293108.1:p.Glu227=
XM_005253931.2:c.679_683delinsGAGGA XP_005253988.1:p.Glu227=
XM_024449168.1:c.679_683delinsGAGGA XP_024304936.1:p.Glu227=
NM_000545.8:c.679_683delinsGAGGA MANE Select NP_000536.6:p.Glu227=
NM_001306179.2:c.679_683delinsGAGGA NP_001293108.2:p.Glu227=