Canonical Allele Identifier: CA2695217530
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993680_120993700del , CM000674.2:g.120993680_120993700del GRCh38
NC_000012.11:g.121431483_121431503del , CM000674.1:g.121431483_121431503del GRCh37
NC_000012.10:g.119915866_119915886del NCBI36
NG_011731.2:g.19935_19955del , LRG_522:g.19935_19955del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.687_707del ENSP00000453965.2:p.Glu230_Cys236del
ENST00000257555.11:c.687_707del MANE Select ENSP00000257555.5:p.Glu230_Cys236del
ENST00000257555.10:c.687_707del ENSP00000257555.4:p.Glu230_Cys236del
ENST00000400024.6:c.687_707del ENSP00000476181.1:p.Glu230_Cys236del
ENST00000402929.5:n.822_842del
ENST00000535955.5:n.43-3811_43-3791del
ENST00000538626.2:n.191-3811_191-3791del
ENST00000538646.5:c.527-484_527-464del ENSP00000443964.1:n.527-484_527-464del
ENST00000540108.1:c.*127_*147del ENSP00000445445.1:n.*127_*147del
ENST00000541395.5:c.687_707del ENSP00000443112.1:p.Glu230_Cys236del
ENST00000541924.5:c.687_707del ENSP00000440361.1:p.Glu230_Cys236del
ENST00000543427.5:c.633+54_633+74del ENSP00000439721.2:n.633+54_633+74del
ENST00000544413.2:c.687_707del ENSP00000438804.1:p.Glu230_Cys236del
ENST00000544574.5:c.73-2937_73-2917del ENSP00000438565.1:n.73-2937_73-2917del
ENST00000560968.5:c.830_850del
ENST00000615446.4:c.-257-2582_-257-2562del ENSP00000483994.1:n.-257-2582_-257-2562del
ENST00000617366.4:c.586+101_586+121del ENSP00000481967.1:n.586+101_586+121del
NM_000545.5:c.687_707del , LRG_522t1:c.687_707del NP_000536.5:p.Glu230_Cys236del
NM_000545.6:c.687_707del NP_000536.5:p.Glu230_Cys236del
NM_001306179.1:c.687_707del NP_001293108.1:p.Glu230_Cys236del
XM_005253931.2:c.687_707del XP_005253988.1:p.Glu230_Cys236del
XM_024449168.1:c.687_707del XP_024304936.1:p.Glu230_Cys236del
NM_000545.8:c.687_707del MANE Select NP_000536.6:p.Glu230_Cys236del
NM_001306179.2:c.687_707del NP_001293108.2:p.Glu230_Cys236del