Canonical Allele Identifier: CA2580085940

Gene: HNF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996562dup , CM000674.2:g.120996562dup	GRCh38
NC_000012.11:g.121434365dup , CM000674.1:g.121434365dup	GRCh37
NC_000012.10:g.119918748dup	NCBI36
NG_011731.2:g.22817dup , LRG_522:g.22817dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000545.8:c.1129dup MANE Select	NP_000536.6:p.Leu377ProfsTer?
ENST00000257555.11:c.1129dup MANE Select	ENSP00000257555.5:p.Leu377ProfsTer?
NM_000545.5:c.1129dup , LRG_522t1:c.1129dup	NP_000536.5:p.Leu377ProfsTer?
NM_000545.6:c.1129dup	NP_000536.5:p.Leu377ProfsTer?
NM_001306179.1:c.1129dup	NP_001293108.1:p.Leu377ProfsTer?
NM_001306179.2:c.1129dup	NP_001293108.2:p.Leu377ProfsTer?
ENST00000257555.10:c.1129dup	ENSP00000257555.4:p.Leu377ProfsTer?
ENST00000400024.6:c.1129dup	ENSP00000476181.1:p.Leu377ProfsTer?
ENST00000402929.5:n.1264dup
ENST00000535955.5:n.43-929dup
ENST00000538626.2:n.191-929dup
ENST00000538646.5:c.*105dup	ENSP00000443964.1:n.*105dup
ENST00000540108.1:c.*569dup	ENSP00000445445.1:n.*569dup
ENST00000541395.5:c.1129dup	ENSP00000443112.1:p.Leu377ProfsTer?
ENST00000541924.5:c.*143dup	ENSP00000440361.1:n.*143dup
ENST00000543255.1:n.173dup
ENST00000543427.5:c.634-42dup	ENSP00000439721.2:n.634-42dup
ENST00000544413.2:c.1129dup	ENSP00000438804.1:p.Leu377ProfsTer?
ENST00000544574.5:c.73-55dup	ENSP00000438565.1:n.73-55dup
ENST00000560968.5:c.946dup
ENST00000560968.6:c.803dup	ENSP00000453965.2:p.Pro269SerfsTer7
ENST00000615446.4:c.-84dup	ENSP00000483994.1:n.-84dup
ENST00000617366.4:c.587-1072dup	ENSP00000481967.1:n.587-1072dup
XM_005253931.2:c.1129dup	XP_005253988.1:p.Leu377ProfsTer?
XM_024449168.1:c.1129dup	XP_024304936.1:p.Leu377ProfsTer?