Canonical Allele Identifier: CA2067685725
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997522_120997523delinsGC , CM000674.2:g.120997522_120997523delinsGC GRCh38
NC_000012.11:g.121435325_121435326delinsGC , CM000674.1:g.121435325_121435326delinsGC GRCh37
NC_000012.10:g.119919708_119919709delinsGC NCBI36
NG_011731.2:g.23777_23778delinsGC , LRG_522:g.23777_23778delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*105_*106delinsGC ENSP00000453965.2:n.*105_*106delinsGC
ENST00000257555.11:c.1358_1359delinsGC MANE Select ENSP00000257555.5:p.Gly453=
ENST00000257555.10:c.1358_1359delinsGC ENSP00000257555.4:p.Gly453=
ENST00000400024.6:c.1358_1359delinsGC ENSP00000476181.1:p.Gly453=
ENST00000402929.5:n.2224_2225delinsGC
ENST00000535955.5:n.74_75delinsGC
ENST00000538626.2:n.222_223delinsGC
ENST00000538646.5:c.*334_*335delinsGC ENSP00000443964.1:n.*334_*335delinsGC
ENST00000540108.1:c.*798_*799delinsGC ENSP00000445445.1:n.*798_*799delinsGC
ENST00000541395.5:c.1358_1359delinsGC ENSP00000443112.1:p.Gly453=
ENST00000541924.5:c.*372_*373delinsGC ENSP00000440361.1:n.*372_*373delinsGC
ENST00000543255.1:n.402_403delinsGC
ENST00000543427.5:c.821_822delinsGC ENSP00000439721.2:p.Gly274=
ENST00000544413.2:c.1358_1359delinsGC ENSP00000438804.1:p.Gly453=
ENST00000544574.5:c.*121_*122delinsGC ENSP00000438565.1:n.*121_*122delinsGC
ENST00000560968.5:c.1175_1176delinsGC
ENST00000615446.4:c.146_147delinsGC ENSP00000483994.1:p.Gly49=
ENST00000617366.4:c.587-112_587-111delinsGC ENSP00000481967.1:n.587-112_587-111delinsGC
NM_000545.5:c.1358_1359delinsGC , LRG_522t1:c.1358_1359delinsGC NP_000536.5:p.Gly453=
NM_000545.6:c.1358_1359delinsGC NP_000536.5:p.Gly453=
NM_001306179.1:c.1358_1359delinsGC NP_001293108.1:p.Gly453=
XM_005253931.2:c.1358_1359delinsGC XP_005253988.1:p.Gly453=
XM_024449168.1:c.1358_1359delinsGC XP_024304936.1:p.Gly453=
NM_000545.8:c.1358_1359delinsGC MANE Select NP_000536.6:p.Gly453=
NM_001306179.2:c.1358_1359delinsGC NP_001293108.2:p.Gly453=