Canonical Allele Identifier: CA2067678443

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 997923
• ClinVar RCV Id: RCV001293584 ; RCV002463809
• dbSNP Id: rs1876937295

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120993673_120993676delinsTCCTCCACTT , CM000674.2:g.120993673_120993676delinsTCCTCCACTT	GRCh38
NC_000012.11:g.121431476_121431479delinsTCCTCCACTT , CM000674.1:g.121431476_121431479delinsTCCTCCACTT	GRCh37
NC_000012.10:g.119915859_119915862delinsTCCTCCACTT	NCBI36
NG_011731.2:g.19928_19931delinsTCCTCCACTT , LRG_522:g.19928_19931delinsTCCTCCACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.680_683delinsTCCTCCACTT	ENSP00000453965.2:p.Glu227_Glu228delinsValLeuHisLeu
ENST00000257555.11:c.680_683delinsTCCTCCACTT MANE Select	ENSP00000257555.5:p.Glu227_Glu228delinsValLeuHisLeu
ENST00000257555.10:c.680_683delinsTCCTCCACTT	ENSP00000257555.4:p.Glu227_Glu228delinsValLeuHisLeu
ENST00000400024.6:c.680_683delinsTCCTCCACTT	ENSP00000476181.1:p.Glu227_Glu228delinsValLeuHisLeu
ENST00000402929.5:n.815_818delinsTCCTCCACTT
ENST00000535955.5:n.43-3818_43-3815delinsTCCTCCACTT
ENST00000538626.2:n.191-3818_191-3815delinsTCCTCCACTT
ENST00000538646.5:c.527-491_527-488delinsTCCTCCACTT	ENSP00000443964.1:n.527-491_527-488delinsTCCTCCACTT
ENST00000540108.1:c.*120_*123delinsTCCTCCACTT	ENSP00000445445.1:n.*120_*123delinsTCCTCCACTT
ENST00000541395.5:c.680_683delinsTCCTCCACTT	ENSP00000443112.1:p.Glu227_Glu228delinsValLeuHisLeu
ENST00000541924.5:c.680_683delinsTCCTCCACTT	ENSP00000440361.1:p.Glu227_Glu228delinsValLeuHisLeu
ENST00000543427.5:c.633+47_633+50delinsTCCTCCACTT	ENSP00000439721.2:n.633+47_633+50delinsTCCTCCACTT
ENST00000544413.2:c.680_683delinsTCCTCCACTT	ENSP00000438804.1:p.Glu227_Glu228delinsValLeuHisLeu
ENST00000544574.5:c.73-2944_73-2941delinsTCCTCCACTT	ENSP00000438565.1:n.73-2944_73-2941delinsTCCTCCACTT
ENST00000560968.5:c.823_826delinsTCCTCCACTT
ENST00000615446.4:c.-257-2589_-257-2586delinsTCCTCCACTT	ENSP00000483994.1:n.-257-2589_-257-2586delinsTCCTCCACTT
ENST00000617366.4:c.586+94_586+97delinsTCCTCCACTT	ENSP00000481967.1:n.586+94_586+97delinsTCCTCCACTT
NM_000545.5:c.680_683delinsTCCTCCACTT , LRG_522t1:c.680_683delinsTCCTCCACTT	NP_000536.5:p.Glu227_Glu228delinsValLeuHisLeu
NM_000545.6:c.680_683delinsTCCTCCACTT	NP_000536.5:p.Glu227_Glu228delinsValLeuHisLeu
NM_001306179.1:c.680_683delinsTCCTCCACTT	NP_001293108.1:p.Glu227_Glu228delinsValLeuHisLeu
XM_005253931.2:c.680_683delinsTCCTCCACTT	XP_005253988.1:p.Glu227_Glu228delinsValLeuHisLeu
XM_024449168.1:c.680_683delinsTCCTCCACTT	XP_024304936.1:p.Glu227_Glu228delinsValLeuHisLeu
NM_000545.8:c.680_683delinsTCCTCCACTT MANE Select	NP_000536.6:p.Glu227_Glu228delinsValLeuHisLeu
NM_001306179.2:c.680_683delinsTCCTCCACTT	NP_001293108.2:p.Glu227_Glu228delinsValLeuHisLeu