Canonical Allele Identifier: CA2573051296
Gene: HNF1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993528dup , CM000674.2:g.120993528dup GRCh38
NC_000012.11:g.121431331dup , CM000674.1:g.121431331dup GRCh37
NC_000012.10:g.119915714dup NCBI36
NG_011731.2:g.19783dup , LRG_522:g.19783dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.535dup ENSP00000453965.2:p.His179ProfsTer9
ENST00000257555.11:c.535dup MANE Select ENSP00000257555.5:p.His179ProfsTer9
ENST00000257555.10:c.535dup ENSP00000257555.4:p.His179ProfsTer9
ENST00000400024.6:c.535dup ENSP00000476181.1:p.His179ProfsTer9
ENST00000402929.5:n.670dup
ENST00000535955.5:n.43-3963dup
ENST00000538626.2:n.191-3963dup
ENST00000538646.5:c.527-636dup ENSP00000443964.1:n.527-636dup
ENST00000540108.1:c.335dup ENSP00000445445.1:p.Cys113MetfsTer7
ENST00000541395.5:c.535dup ENSP00000443112.1:p.His179ProfsTer9
ENST00000541924.5:c.535dup ENSP00000440361.1:p.His179ProfsTer9
ENST00000543427.5:c.535dup ENSP00000439721.2:p.His179ProfsTer9
ENST00000544413.2:c.535dup ENSP00000438804.1:p.His179ProfsTer9
ENST00000544574.5:c.73-3089dup ENSP00000438565.1:n.73-3089dup
ENST00000560968.5:c.678dup
ENST00000615446.4:c.-257-2734dup ENSP00000483994.1:n.-257-2734dup
ENST00000617366.4:c.535dup ENSP00000481967.1:p.His179ProfsTer9
NM_000545.5:c.535dup , LRG_522t1:c.535dup NP_000536.5:p.His179ProfsTer9
NM_000545.6:c.535dup NP_000536.5:p.His179ProfsTer9
NM_001306179.1:c.535dup NP_001293108.1:p.His179ProfsTer9
XM_005253931.2:c.535dup XP_005253988.1:p.His179ProfsTer9
XM_024449168.1:c.535dup XP_024304936.1:p.His179ProfsTer9
NM_000545.8:c.535dup MANE Select NP_000536.6:p.His179ProfsTer9
NM_001306179.2:c.535dup NP_001293108.2:p.His179ProfsTer9
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