Canonical Allele Identifier: CA2695217568
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997539del , CM000674.2:g.120997539del GRCh38
NC_000012.11:g.121435342del , CM000674.1:g.121435342del GRCh37
NC_000012.10:g.119919725del NCBI36
NG_011731.2:g.23794del , LRG_522:g.23794del

Transcript Alleles

HGVS Amino-acid change
ENST00000560968.6:c.*122del ENSP00000453965.2:n.*122del
ENST00000257555.11:c.1375del MANE Select ENSP00000257555.5:p.Leu459CysfsTer26
ENST00000257555.10:c.1375del ENSP00000257555.4:p.Leu459CysfsTer26
ENST00000400024.6:c.1375del ENSP00000476181.1:p.Leu459CysfsTer26
ENST00000402929.5:n.2241del
ENST00000535955.5:n.91del
ENST00000538626.2:n.239del
ENST00000538646.5:c.*351del ENSP00000443964.1:n.*351del
ENST00000540108.1:c.*815del ENSP00000445445.1:n.*815del
ENST00000541395.5:c.1375del ENSP00000443112.1:p.Leu459CysfsTer26
ENST00000541924.5:c.*389del ENSP00000440361.1:n.*389del
ENST00000543255.1:n.419del
ENST00000543427.5:c.838del ENSP00000439721.2:p.Leu280CysfsTer26
ENST00000544413.2:c.1375del ENSP00000438804.1:p.Leu459CysfsTer26
ENST00000544574.5:c.*138del ENSP00000438565.1:n.*138del
ENST00000560968.5:c.1192del
ENST00000615446.4:c.163del ENSP00000483994.1:p.Leu55CysfsTer26
ENST00000617366.4:c.587-95del ENSP00000481967.1:n.587-95del
NM_000545.5:c.1375del , LRG_522t1:c.1375del NP_000536.5:p.Leu459CysfsTer26
NM_000545.6:c.1375del NP_000536.5:p.Leu459CysfsTer26
NM_001306179.1:c.1375del NP_001293108.1:p.Leu459CysfsTer26
XM_005253931.2:c.1375del XP_005253988.1:p.Leu459CysfsTer26
XM_024449168.1:c.1375del XP_024304936.1:p.Leu459CysfsTer26
NM_000545.8:c.1375del MANE Select NP_000536.6:p.Leu459CysfsTer26
NM_001306179.2:c.1375del NP_001293108.2:p.Leu459CysfsTer26