Canonical Allele Identifier: CA2695217560
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997487del , CM000674.2:g.120997487del GRCh38
NC_000012.11:g.121435290del , CM000674.1:g.121435290del GRCh37
NC_000012.10:g.119919673del NCBI36
NG_011731.2:g.23742del , LRG_522:g.23742del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*70del ENSP00000453965.2:n.*70del
ENST00000257555.11:c.1323del MANE Select ENSP00000257555.5:p.Gln442ArgfsTer15
ENST00000257555.10:c.1323del ENSP00000257555.4:p.Gln442ArgfsTer15
ENST00000400024.6:c.1323del ENSP00000476181.1:p.Gln442ArgfsTer15
ENST00000402929.5:n.2189del
ENST00000535955.5:n.43-4del
ENST00000538626.2:n.191-4del
ENST00000538646.5:c.*299del ENSP00000443964.1:n.*299del
ENST00000540108.1:c.*763del ENSP00000445445.1:n.*763del
ENST00000541395.5:c.1323del ENSP00000443112.1:p.Gln442ArgfsTer15
ENST00000541924.5:c.*337del ENSP00000440361.1:n.*337del
ENST00000543255.1:n.367del
ENST00000543427.5:c.786del ENSP00000439721.2:p.Gln263ArgfsTer15
ENST00000544413.2:c.1323del ENSP00000438804.1:p.Gln442ArgfsTer15
ENST00000544574.5:c.*86del ENSP00000438565.1:n.*86del
ENST00000560968.5:c.1140del
ENST00000615446.4:c.111del ENSP00000483994.1:p.Gln38ArgfsTer15
ENST00000617366.4:c.587-147del ENSP00000481967.1:n.587-147del
NM_000545.5:c.1323del , LRG_522t1:c.1323del NP_000536.5:p.Gln442ArgfsTer15
NM_000545.6:c.1323del NP_000536.5:p.Gln442ArgfsTer15
NM_001306179.1:c.1323del NP_001293108.1:p.Gln442ArgfsTer15
XM_005253931.2:c.1323del XP_005253988.1:p.Gln442ArgfsTer15
XM_024449168.1:c.1323del XP_024304936.1:p.Gln442ArgfsTer15
NM_000545.8:c.1323del MANE Select NP_000536.6:p.Gln442ArgfsTer15
NM_001306179.2:c.1323del NP_001293108.2:p.Gln442ArgfsTer15