Canonical Allele Identifier: CA2695217545

Gene: HNF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120994196dup , CM000674.2:g.120994196dup	GRCh38
NC_000012.11:g.121431999dup , CM000674.1:g.121431999dup	GRCh37
NC_000012.10:g.119916382dup	NCBI36
NG_011731.2:g.20451dup , LRG_522:g.20451dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.746dup	ENSP00000453965.2:p.Gln250ThrfsTer6
ENST00000257555.11:c.746dup MANE Select	ENSP00000257555.5:p.Gln250ThrfsTer?
ENST00000257555.10:c.746dup	ENSP00000257555.4:p.Gln250ThrfsTer?
ENST00000400024.6:c.746dup	ENSP00000476181.1:p.Gln250ThrfsTer?
ENST00000402929.5:n.881dup
ENST00000535955.5:n.43-3295dup
ENST00000538626.2:n.191-3295dup
ENST00000538646.5:c.559dup	ENSP00000443964.1:p.His187ProfsTer?
ENST00000540108.1:c.*186dup	ENSP00000445445.1:n.*186dup
ENST00000541395.5:c.746dup	ENSP00000443112.1:p.Gln250ThrfsTer?
ENST00000541924.5:c.713+490dup	ENSP00000440361.1:n.713+490dup
ENST00000543427.5:c.633+570dup	ENSP00000439721.2:n.633+570dup
ENST00000544413.2:c.746dup	ENSP00000438804.1:p.Gln250ThrfsTer?
ENST00000544574.5:c.73-2421dup	ENSP00000438565.1:n.73-2421dup
ENST00000560968.5:c.889dup
ENST00000615446.4:c.-257-2066dup	ENSP00000483994.1:n.-257-2066dup
ENST00000617366.4:c.586+617dup	ENSP00000481967.1:n.586+617dup
NM_000545.5:c.746dup , LRG_522t1:c.746dup	NP_000536.5:p.Gln250ThrfsTer?
NM_000545.6:c.746dup	NP_000536.5:p.Gln250ThrfsTer?
NM_001306179.1:c.746dup	NP_001293108.1:p.Gln250ThrfsTer?
XM_005253931.2:c.746dup	XP_005253988.1:p.Gln250ThrfsTer?
XM_024449168.1:c.746dup	XP_024304936.1:p.Gln250ThrfsTer?
NM_000545.8:c.746dup MANE Select	NP_000536.6:p.Gln250ThrfsTer?
NM_001306179.2:c.746dup	NP_001293108.2:p.Gln250ThrfsTer?