Canonical Allele Identifier: CA2575322102
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1700665
ClinVar RCV Id: RCV002285543
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997620del , CM000674.2:g.120997620del GRCh38
NC_000012.11:g.121435423del , CM000674.1:g.121435423del GRCh37
NC_000012.10:g.119919806del NCBI36
NG_011731.2:g.23875del , LRG_522:g.23875del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*203del ENSP00000453965.2:n.*203del
ENST00000257555.11:c.1456del MANE Select ENSP00000257555.5:p.Gln486ArgfsTer?
ENST00000257555.10:c.1456del ENSP00000257555.4:p.Gln486ArgfsTer?
ENST00000400024.6:c.1456del ENSP00000476181.1:p.Gln486ArgfsTer?
ENST00000402929.5:n.2322del
ENST00000535955.5:n.172del
ENST00000538626.2:n.320del
ENST00000538646.5:c.*432del ENSP00000443964.1:n.*432del
ENST00000540108.1:c.*896del ENSP00000445445.1:n.*896del
ENST00000541395.5:c.1456del ENSP00000443112.1:p.Gln486ArgfsTer?
ENST00000541924.5:c.*470del ENSP00000440361.1:n.*470del
ENST00000543255.1:n.500del
ENST00000543427.5:c.919del ENSP00000439721.2:p.Gln307ArgfsTer?
ENST00000544413.2:c.1456del ENSP00000438804.1:p.Gln486ArgfsTer?
ENST00000544574.5:c.*219del ENSP00000438565.1:n.*219del
ENST00000560968.5:c.1273del
ENST00000615446.4:c.244del ENSP00000483994.1:p.Gln82ArgfsTer?
ENST00000617366.4:c.587-14del ENSP00000481967.1:n.587-14del
NM_000545.5:c.1456del , LRG_522t1:c.1456del NP_000536.5:p.Gln486ArgfsTer?
NM_000545.6:c.1456del NP_000536.5:p.Gln486ArgfsTer?
NM_001306179.1:c.1456del NP_001293108.1:p.Gln486ArgfsTer?
XM_005253931.2:c.1456del XP_005253988.1:p.Gln486ArgfsTer?
XM_024449168.1:c.1456del XP_024304936.1:p.Gln486ArgfsTer?
NM_000545.8:c.1456del MANE Select NP_000536.6:p.Gln486ArgfsTer?
NM_001306179.2:c.1456del NP_001293108.2:p.Gln486ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'