Canonical Allele Identifier: CA2695217548
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994204dup , CM000674.2:g.120994204dup GRCh38
NC_000012.11:g.121432007dup , CM000674.1:g.121432007dup GRCh37
NC_000012.10:g.119916390dup NCBI36
NG_011731.2:g.20459dup , LRG_522:g.20459dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+4dup ENSP00000453965.2:n.750+4dup
ENST00000257555.11:c.754dup MANE Select ENSP00000257555.5:p.Gln252ProfsTer?
ENST00000257555.10:c.754dup ENSP00000257555.4:p.Gln252ProfsTer?
ENST00000400024.6:c.754dup ENSP00000476181.1:p.Gln252ProfsTer?
ENST00000402929.5:n.889dup
ENST00000535955.5:n.43-3287dup
ENST00000538626.2:n.191-3287dup
ENST00000538646.5:c.567dup ENSP00000443964.1:p.Arg190GlnfsTer?
ENST00000540108.1:c.*194dup ENSP00000445445.1:n.*194dup
ENST00000541395.5:c.754dup ENSP00000443112.1:p.Gln252ProfsTer?
ENST00000541924.5:c.713+498dup ENSP00000440361.1:n.713+498dup
ENST00000543427.5:c.633+578dup ENSP00000439721.2:n.633+578dup
ENST00000544413.2:c.754dup ENSP00000438804.1:p.Gln252ProfsTer?
ENST00000544574.5:c.73-2413dup ENSP00000438565.1:n.73-2413dup
ENST00000560968.5:c.893+4dup
ENST00000615446.4:c.-257-2058dup ENSP00000483994.1:n.-257-2058dup
ENST00000617366.4:c.586+625dup ENSP00000481967.1:n.586+625dup
NM_000545.5:c.754dup , LRG_522t1:c.754dup NP_000536.5:p.Gln252ProfsTer?
NM_000545.6:c.754dup NP_000536.5:p.Gln252ProfsTer?
NM_001306179.1:c.754dup NP_001293108.1:p.Gln252ProfsTer?
XM_005253931.2:c.754dup XP_005253988.1:p.Gln252ProfsTer?
XM_024449168.1:c.754dup XP_024304936.1:p.Gln252ProfsTer?
NM_000545.8:c.754dup MANE Select NP_000536.6:p.Gln252ProfsTer?
NM_001306179.2:c.754dup NP_001293108.2:p.Gln252ProfsTer?