Canonical Allele Identifier: CA2580085932
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2017522
ClinVar RCV Id: RCV002856831

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994315_120994316delinsG , CM000674.2:g.120994315_120994316delinsG GRCh38
NC_000012.11:g.121432118_121432119delinsG , CM000674.1:g.121432118_121432119delinsG GRCh37
NC_000012.10:g.119916501_119916502delinsG NCBI36
NG_011731.2:g.20570_20571delinsG , LRG_522:g.20570_20571delinsG

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+115_750+116delinsG ENSP00000453965.2:n.750+115_750+116delinsG
ENST00000257555.11:c.865_866delinsG MANE Select ENSP00000257555.5:p.Pro289AlafsTer?
ENST00000257555.10:c.865_866delinsG ENSP00000257555.4:p.Pro289AlafsTer?
ENST00000400024.6:c.865_866delinsG ENSP00000476181.1:p.Pro289AlafsTer?
ENST00000402929.5:n.1000_1001delinsG
ENST00000535955.5:n.43-3176_43-3175delinsG
ENST00000538626.2:n.191-3176_191-3175delinsG
ENST00000538646.5:c.678_679delinsG ENSP00000443964.1:p.Gln229ArgfsTer25
ENST00000540108.1:c.*305_*306delinsG ENSP00000445445.1:n.*305_*306delinsG
ENST00000541395.5:c.865_866delinsG ENSP00000443112.1:p.Pro289AlafsTer?
ENST00000541924.5:c.713+609_713+610delinsG ENSP00000440361.1:n.713+609_713+610delinsG
ENST00000543427.5:c.633+689_633+690delinsG ENSP00000439721.2:n.633+689_633+690delinsG
ENST00000544413.2:c.865_866delinsG ENSP00000438804.1:p.Pro289AlafsTer?
ENST00000544574.5:c.73-2302_73-2301delinsG ENSP00000438565.1:n.73-2302_73-2301delinsG
ENST00000560968.5:c.893+115_893+116delinsG
ENST00000615446.4:c.-257-1947_-257-1946delinsG ENSP00000483994.1:n.-257-1947_-257-1946delinsG
ENST00000617366.4:c.586+736_586+737delinsG ENSP00000481967.1:n.586+736_586+737delinsG
NM_000545.5:c.865_866delinsG , LRG_522t1:c.865_866delinsG NP_000536.5:p.Pro289AlafsTer?
NM_000545.6:c.865_866delinsG NP_000536.5:p.Pro289AlafsTer?
NM_001306179.1:c.865_866delinsG NP_001293108.1:p.Pro289AlafsTer?
XM_005253931.2:c.865_866delinsG XP_005253988.1:p.Pro289AlafsTer?
XM_024449168.1:c.865_866delinsG XP_024304936.1:p.Pro289AlafsTer?
NM_000545.8:c.865_866delinsG MANE Select NP_000536.6:p.Pro289AlafsTer?
NM_001306179.2:c.865_866delinsG NP_001293108.2:p.Pro289AlafsTer?