Canonical Allele Identifier: CA2573051037

Gene: HNF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120978964dup , CM000674.2:g.120978964dup	GRCh38
NC_000012.11:g.121416767dup , CM000674.1:g.121416767dup	GRCh37
NC_000012.10:g.119901150dup	NCBI36
NG_011731.2:g.5219dup , LRG_522:g.5219dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.196dup	ENSP00000453965.2:p.Glu66GlyfsTer30
ENST00000257555.11:c.196dup MANE Select	ENSP00000257555.5:p.Glu66GlyfsTer30
ENST00000257555.10:c.196dup	ENSP00000257555.4:p.Glu66GlyfsTer30
ENST00000400024.6:c.196dup	ENSP00000476181.1:p.Glu66GlyfsTer30
ENST00000402929.5:n.331dup
ENST00000535955.5:n.42+272dup
ENST00000538626.2:n.190+124dup
ENST00000538646.5:c.196dup	ENSP00000443964.1:p.Glu66GlyfsTer30
ENST00000540108.1:c.196dup	ENSP00000445445.1:p.Glu66GlyfsTer30
ENST00000541395.5:c.196dup	ENSP00000443112.1:p.Glu66GlyfsTer30
ENST00000541924.5:c.196dup	ENSP00000440361.1:p.Glu66GlyfsTer30
ENST00000543427.5:c.196dup	ENSP00000439721.2:p.Glu66GlyfsTer30
ENST00000544413.2:c.196dup	ENSP00000438804.1:p.Glu66GlyfsTer30
ENST00000544574.5:c.72+124dup	ENSP00000438565.1:n.72+124dup
ENST00000560968.5:c.339dup
ENST00000615446.4:c.-258+253dup	ENSP00000483994.1:n.-258+253dup
ENST00000617366.4:c.196dup	ENSP00000481967.1:p.Glu66GlyfsTer30
NM_000545.5:c.196dup , LRG_522t1:c.196dup	NP_000536.5:p.Glu66GlyfsTer30
NM_000545.6:c.196dup	NP_000536.5:p.Glu66GlyfsTer30
NM_001306179.1:c.196dup	NP_001293108.1:p.Glu66GlyfsTer30
XM_005253931.2:c.196dup	XP_005253988.1:p.Glu66GlyfsTer30
XM_024449168.1:c.196dup	XP_024304936.1:p.Glu66GlyfsTer30
NM_000545.8:c.196dup MANE Select	NP_000536.6:p.Glu66GlyfsTer30
NM_001306179.2:c.196dup	NP_001293108.2:p.Glu66GlyfsTer30