Canonical Allele Identifier: CA2067685630
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997491_120997493delinsGCA , CM000674.2:g.120997491_120997493delinsGCA GRCh38
NC_000012.11:g.121435294_121435296delinsGCA , CM000674.1:g.121435294_121435296delinsGCA GRCh37
NC_000012.10:g.119919677_119919679delinsGCA NCBI36
NG_011731.2:g.23746_23748delinsGCA , LRG_522:g.23746_23748delinsGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*74_*76delinsGCA ENSP00000453965.2:n.*74_*76delinsGCA
ENST00000257555.11:c.1327_1329delinsGCA MANE Select ENSP00000257555.5:p.Ala443=
ENST00000257555.10:c.1327_1329delinsGCA ENSP00000257555.4:p.Ala443=
ENST00000400024.6:c.1327_1329delinsGCA ENSP00000476181.1:p.Ala443=
ENST00000402929.5:n.2193_2195delinsGCA
ENST00000535955.5:n.43_45delinsGCA
ENST00000538626.2:n.191_193delinsGCA
ENST00000538646.5:c.*303_*305delinsGCA ENSP00000443964.1:n.*303_*305delinsGCA
ENST00000540108.1:c.*767_*769delinsGCA ENSP00000445445.1:n.*767_*769delinsGCA
ENST00000541395.5:c.1327_1329delinsGCA ENSP00000443112.1:p.Ala443=
ENST00000541924.5:c.*341_*343delinsGCA ENSP00000440361.1:n.*341_*343delinsGCA
ENST00000543255.1:n.371_373delinsGCA
ENST00000543427.5:c.790_792delinsGCA ENSP00000439721.2:p.Ala264=
ENST00000544413.2:c.1327_1329delinsGCA ENSP00000438804.1:p.Ala443=
ENST00000544574.5:c.*90_*92delinsGCA ENSP00000438565.1:n.*90_*92delinsGCA
ENST00000560968.5:c.1144_1146delinsGCA
ENST00000615446.4:c.115_117delinsGCA ENSP00000483994.1:p.Ala39=
ENST00000617366.4:c.587-143_587-141delinsGCA ENSP00000481967.1:n.587-143_587-141delinsGCA
NM_000545.5:c.1327_1329delinsGCA , LRG_522t1:c.1327_1329delinsGCA NP_000536.5:p.Ala443=
NM_000545.6:c.1327_1329delinsGCA NP_000536.5:p.Ala443=
NM_001306179.1:c.1327_1329delinsGCA NP_001293108.1:p.Ala443=
XM_005253931.2:c.1327_1329delinsGCA XP_005253988.1:p.Ala443=
XM_024449168.1:c.1327_1329delinsGCA XP_024304936.1:p.Ala443=
NM_000545.8:c.1327_1329delinsGCA MANE Select NP_000536.6:p.Ala443=
NM_001306179.2:c.1327_1329delinsGCA NP_001293108.2:p.Ala443=