Canonical Allele Identifier: CA2695217575
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997588dup , CM000674.2:g.120997588dup GRCh38
NC_000012.11:g.121435391dup , CM000674.1:g.121435391dup GRCh37
NC_000012.10:g.119919774dup NCBI36
NG_011731.2:g.23843dup , LRG_522:g.23843dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*171dup ENSP00000453965.2:n.*171dup
ENST00000257555.11:c.1424dup MANE Select ENSP00000257555.5:p.Leu476AlafsTer?
ENST00000257555.10:c.1424dup ENSP00000257555.4:p.Leu476AlafsTer?
ENST00000400024.6:c.1424dup ENSP00000476181.1:p.Leu476AlafsTer27
ENST00000402929.5:n.2290dup
ENST00000535955.5:n.140dup
ENST00000538626.2:n.288dup
ENST00000538646.5:c.*400dup ENSP00000443964.1:n.*400dup
ENST00000540108.1:c.*864dup ENSP00000445445.1:n.*864dup
ENST00000541395.5:c.1424dup ENSP00000443112.1:p.Leu476AlafsTer?
ENST00000541924.5:c.*438dup ENSP00000440361.1:n.*438dup
ENST00000543255.1:n.468dup
ENST00000543427.5:c.887dup ENSP00000439721.2:p.Leu297AlafsTer?
ENST00000544413.2:c.1424dup ENSP00000438804.1:p.Leu476AlafsTer?
ENST00000544574.5:c.*187dup ENSP00000438565.1:n.*187dup
ENST00000560968.5:c.1241dup
ENST00000615446.4:c.212dup ENSP00000483994.1:p.Leu72AlafsTer?
ENST00000617366.4:c.587-46dup ENSP00000481967.1:n.587-46dup
NM_000545.5:c.1424dup , LRG_522t1:c.1424dup NP_000536.5:p.Leu476AlafsTer?
NM_000545.6:c.1424dup NP_000536.5:p.Leu476AlafsTer?
NM_001306179.1:c.1424dup NP_001293108.1:p.Leu476AlafsTer?
XM_005253931.2:c.1424dup XP_005253988.1:p.Leu476AlafsTer?
XM_024449168.1:c.1424dup XP_024304936.1:p.Leu476AlafsTer?
NM_000545.8:c.1424dup MANE Select NP_000536.6:p.Leu476AlafsTer?
NM_001306179.2:c.1424dup NP_001293108.2:p.Leu476AlafsTer?