Canonical Allele Identifier: CA2695217564
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997526dup , CM000674.2:g.120997526dup GRCh38
NC_000012.11:g.121435329dup , CM000674.1:g.121435329dup GRCh37
NC_000012.10:g.119919712dup NCBI36
NG_011731.2:g.23781dup , LRG_522:g.23781dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*109dup ENSP00000453965.2:n.*109dup
ENST00000257555.11:c.1362dup MANE Select ENSP00000257555.5:p.Ser455GlnfsTer?
ENST00000257555.10:c.1362dup ENSP00000257555.4:p.Ser455GlnfsTer?
ENST00000400024.6:c.1362dup ENSP00000476181.1:p.Ser455GlnfsTer?
ENST00000402929.5:n.2228dup
ENST00000535955.5:n.78dup
ENST00000538626.2:n.226dup
ENST00000538646.5:c.*338dup ENSP00000443964.1:n.*338dup
ENST00000540108.1:c.*802dup ENSP00000445445.1:n.*802dup
ENST00000541395.5:c.1362dup ENSP00000443112.1:p.Ser455GlnfsTer?
ENST00000541924.5:c.*376dup ENSP00000440361.1:n.*376dup
ENST00000543255.1:n.406dup
ENST00000543427.5:c.825dup ENSP00000439721.2:p.Ser276GlnfsTer?
ENST00000544413.2:c.1362dup ENSP00000438804.1:p.Ser455GlnfsTer?
ENST00000544574.5:c.*125dup ENSP00000438565.1:n.*125dup
ENST00000560968.5:c.1179dup
ENST00000615446.4:c.150dup ENSP00000483994.1:p.Ser51GlnfsTer?
ENST00000617366.4:c.587-108dup ENSP00000481967.1:n.587-108dup
NM_000545.5:c.1362dup , LRG_522t1:c.1362dup NP_000536.5:p.Ser455GlnfsTer?
NM_000545.6:c.1362dup NP_000536.5:p.Ser455GlnfsTer?
NM_001306179.1:c.1362dup NP_001293108.1:p.Ser455GlnfsTer?
XM_005253931.2:c.1362dup XP_005253988.1:p.Ser455GlnfsTer?
XM_024449168.1:c.1362dup XP_024304936.1:p.Ser455GlnfsTer?
NM_000545.8:c.1362dup MANE Select NP_000536.6:p.Ser455GlnfsTer?
NM_001306179.2:c.1362dup NP_001293108.2:p.Ser455GlnfsTer?