Canonical Allele Identifier: CA2839075990

Gene: HNF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996267dup , CM000674.2:g.120996267dup	GRCh38
NC_000012.11:g.121434070dup , CM000674.1:g.121434070dup	GRCh37
NC_000012.10:g.119918453dup	NCBI36
NG_011731.2:g.22522dup , LRG_522:g.22522dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.751-116dup	ENSP00000453965.2:n.751-116dup
ENST00000257555.11:c.961dup MANE Select	ENSP00000257555.5:p.Arg321ProfsTer9
ENST00000257555.10:c.961dup	ENSP00000257555.4:p.Arg321ProfsTer9
ENST00000400024.6:c.961dup	ENSP00000476181.1:p.Arg321ProfsTer9
ENST00000402929.5:n.1096dup
ENST00000535955.5:n.43-1224dup
ENST00000538626.2:n.191-1224dup
ENST00000538646.5:c.774dup	ENSP00000443964.1:p.Ala259ArgfsTer?
ENST00000540108.1:c.*401dup	ENSP00000445445.1:n.*401dup
ENST00000541395.5:c.961dup	ENSP00000443112.1:p.Arg321ProfsTer9
ENST00000541924.5:c.719dup	ENSP00000440361.1:p.Leu241AlafsTer21
ENST00000543427.5:c.634-337dup	ENSP00000439721.2:n.634-337dup
ENST00000544413.2:c.961dup	ENSP00000438804.1:p.Arg321ProfsTer9
ENST00000544574.5:c.73-350dup	ENSP00000438565.1:n.73-350dup
ENST00000560968.5:c.894-116dup
ENST00000615446.4:c.-252dup	ENSP00000483994.1:n.-252dup
ENST00000617366.4:c.587-1367dup	ENSP00000481967.1:n.587-1367dup
NM_000545.5:c.961dup , LRG_522t1:c.961dup	NP_000536.5:p.Arg321ProfsTer9
NM_000545.6:c.961dup	NP_000536.5:p.Arg321ProfsTer9
NM_001306179.1:c.961dup	NP_001293108.1:p.Arg321ProfsTer9
XM_005253931.2:c.961dup	XP_005253988.1:p.Arg321ProfsTer9
XM_024449168.1:c.961dup	XP_024304936.1:p.Arg321ProfsTer9
NM_000545.8:c.961dup MANE Select	NP_000536.6:p.Arg321ProfsTer9
NM_001306179.2:c.961dup	NP_001293108.2:p.Arg321ProfsTer9