Canonical Allele Identifier: CA2499221470
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1172848
ClinVar RCV Id: RCV001526900
dbSNP Id: rs2135847490

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997509_120997510insG , CM000674.2:g.120997509_120997510insG GRCh38
NC_000012.11:g.121435312_121435313insG , CM000674.1:g.121435312_121435313insG GRCh37
NC_000012.10:g.119919695_119919696insG NCBI36
NG_011731.2:g.23764_23765insG , LRG_522:g.23764_23765insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*92_*93insG ENSP00000453965.2:n.*92_*93insG
ENST00000257555.11:c.1345_1346insG MANE Select ENSP00000257555.5:p.Ile449SerfsTer?
ENST00000257555.10:c.1345_1346insG ENSP00000257555.4:p.Ile449SerfsTer?
ENST00000400024.6:c.1345_1346insG ENSP00000476181.1:p.Ile449SerfsTer?
ENST00000402929.5:n.2211_2212insG
ENST00000535955.5:n.61_62insG
ENST00000538626.2:n.209_210insG
ENST00000538646.5:c.*321_*322insG ENSP00000443964.1:n.*321_*322insG
ENST00000540108.1:c.*785_*786insG ENSP00000445445.1:n.*785_*786insG
ENST00000541395.5:c.1345_1346insG ENSP00000443112.1:p.Ile449SerfsTer?
ENST00000541924.5:c.*359_*360insG ENSP00000440361.1:n.*359_*360insG
ENST00000543255.1:n.389_390insG
ENST00000543427.5:c.808_809insG ENSP00000439721.2:p.Ile270SerfsTer?
ENST00000544413.2:c.1345_1346insG ENSP00000438804.1:p.Ile449SerfsTer?
ENST00000544574.5:c.*108_*109insG ENSP00000438565.1:n.*108_*109insG
ENST00000560968.5:c.1162_1163insG
ENST00000615446.4:c.133_134insG ENSP00000483994.1:p.Ile45SerfsTer?
ENST00000617366.4:c.587-125_587-124insG ENSP00000481967.1:n.587-125_587-124insG
NM_000545.5:c.1345_1346insG , LRG_522t1:c.1345_1346insG NP_000536.5:p.Ile449SerfsTer?
NM_000545.6:c.1345_1346insG NP_000536.5:p.Ile449SerfsTer?
NM_001306179.1:c.1345_1346insG NP_001293108.1:p.Ile449SerfsTer?
XM_005253931.2:c.1345_1346insG XP_005253988.1:p.Ile449SerfsTer?
XM_024449168.1:c.1345_1346insG XP_024304936.1:p.Ile449SerfsTer?
NM_000545.8:c.1345_1346insG MANE Select NP_000536.6:p.Ile449SerfsTer?
NM_001306179.2:c.1345_1346insG NP_001293108.2:p.Ile449SerfsTer?