Canonical Allele Identifier: CA2695217563
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997522del , CM000674.2:g.120997522del GRCh38
NC_000012.11:g.121435325del , CM000674.1:g.121435325del GRCh37
NC_000012.10:g.119919708del NCBI36
NG_011731.2:g.23777del , LRG_522:g.23777del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*105del ENSP00000453965.2:n.*105del
ENST00000257555.11:c.1358del MANE Select ENSP00000257555.5:p.Gly453AlafsTer4
ENST00000257555.10:c.1358del ENSP00000257555.4:p.Gly453AlafsTer4
ENST00000400024.6:c.1358del ENSP00000476181.1:p.Gly453AlafsTer4
ENST00000402929.5:n.2224del
ENST00000535955.5:n.74del
ENST00000538626.2:n.222del
ENST00000538646.5:c.*334del ENSP00000443964.1:n.*334del
ENST00000540108.1:c.*798del ENSP00000445445.1:n.*798del
ENST00000541395.5:c.1358del ENSP00000443112.1:p.Gly453AlafsTer4
ENST00000541924.5:c.*372del ENSP00000440361.1:n.*372del
ENST00000543255.1:n.402del
ENST00000543427.5:c.821del ENSP00000439721.2:p.Gly274AlafsTer4
ENST00000544413.2:c.1358del ENSP00000438804.1:p.Gly453AlafsTer4
ENST00000544574.5:c.*121del ENSP00000438565.1:n.*121del
ENST00000560968.5:c.1175del
ENST00000615446.4:c.146del ENSP00000483994.1:p.Gly49AlafsTer4
ENST00000617366.4:c.587-112del ENSP00000481967.1:n.587-112del
NM_000545.5:c.1358del , LRG_522t1:c.1358del NP_000536.5:p.Gly453AlafsTer4
NM_000545.6:c.1358del NP_000536.5:p.Gly453AlafsTer4
NM_001306179.1:c.1358del NP_001293108.1:p.Gly453AlafsTer4
XM_005253931.2:c.1358del XP_005253988.1:p.Gly453AlafsTer4
XM_024449168.1:c.1358del XP_024304936.1:p.Gly453AlafsTer4
NM_000545.8:c.1358del MANE Select NP_000536.6:p.Gly453AlafsTer4
NM_001306179.2:c.1358del NP_001293108.2:p.Gly453AlafsTer4