Canonical Allele Identifier: CA2739277334
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2824379
ClinVar RCV Id: RCV003678216
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994384del , CM000674.2:g.120994384del GRCh38
NC_000012.11:g.121432187del , CM000674.1:g.121432187del GRCh37
NC_000012.10:g.119916570del NCBI36
NG_011731.2:g.20639del , LRG_522:g.20639del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+184del ENSP00000453965.2:n.750+184del
ENST00000257555.11:c.934del MANE Select ENSP00000257555.5:p.Leu312SerfsTer30
ENST00000257555.10:c.934del ENSP00000257555.4:p.Leu312SerfsTer30
ENST00000400024.6:c.934del ENSP00000476181.1:p.Leu312SerfsTer30
ENST00000402929.5:n.1069del
ENST00000535955.5:n.43-3107del
ENST00000538626.2:n.191-3107del
ENST00000538646.5:c.747del ENSP00000443964.1:p.Ser250LeufsTer4
ENST00000540108.1:c.*374del ENSP00000445445.1:n.*374del
ENST00000541395.5:c.934del ENSP00000443112.1:p.Leu312SerfsTer30
ENST00000541924.5:c.713+678del ENSP00000440361.1:n.713+678del
ENST00000543427.5:c.633+758del ENSP00000439721.2:n.633+758del
ENST00000544413.2:c.934del ENSP00000438804.1:p.Leu312SerfsTer30
ENST00000544574.5:c.73-2233del ENSP00000438565.1:n.73-2233del
ENST00000560968.5:c.893+184del
ENST00000615446.4:c.-257-1878del ENSP00000483994.1:n.-257-1878del
ENST00000617366.4:c.586+805del ENSP00000481967.1:n.586+805del
NM_000545.5:c.934del , LRG_522t1:c.934del NP_000536.5:p.Leu312SerfsTer30
NM_000545.6:c.934del NP_000536.5:p.Leu312SerfsTer30
NM_001306179.1:c.934del NP_001293108.1:p.Leu312SerfsTer30
XM_005253931.2:c.934del XP_005253988.1:p.Leu312SerfsTer30
XM_024449168.1:c.934del XP_024304936.1:p.Leu312SerfsTer30
NM_000545.8:c.934del MANE Select NP_000536.6:p.Leu312SerfsTer30
NM_001306179.2:c.934del NP_001293108.2:p.Leu312SerfsTer30
Search 100 bp 5'
Search 100 bp 3'