Canonical Allele Identifier: CA2499221472
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120999578_120999579delinsTG , CM000674.2:g.120999578_120999579delinsTG GRCh38
NC_000012.11:g.121437381_121437382delinsTG , CM000674.1:g.121437381_121437382delinsTG GRCh37
NC_000012.10:g.119921764_119921765delinsTG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*466_*467delinsTG ENSP00000453965.2:n.*466_*467delinsTG
ENST00000257555.11:c.1719_1720delinsTG MANE Select ENSP00000257555.5:p.Ser574Gly
ENST00000257555.10:c.1719_1720delinsTG ENSP00000257555.4:p.Ser574Gly
ENST00000540108.1:c.*1159_*1160delinsTG ENSP00000445445.1:n.*1159_*1160delinsTG
ENST00000541395.5:c.1812_1813delinsTG ENSP00000443112.1:p.Ser605Gly
ENST00000543427.5:c.1182_1183delinsTG ENSP00000439721.2:p.Ser395Gly
ENST00000544413.2:c.1740_1741delinsTG ENSP00000438804.1:p.Ser581Gly
ENST00000560968.5:c.1536_1537delinsTG
ENST00000615446.4:c.507_508delinsTG ENSP00000483994.1:p.Ser170Gly
ENST00000617366.4:c.*128_*129delinsTG ENSP00000481967.1:n.*128_*129delinsTG
XM_005253931.2:c.1812_1813delinsTG XP_005253988.1:p.Ser605Gly
XM_024449168.1:c.1812_1813delinsTG XP_024304936.1:p.Ser605Gly
NM_000545.8:c.1719_1720delinsTG MANE Select NP_000536.6:p.Ser574Gly
NM_001306179.2:c.1740_1741delinsTG NP_001293108.2:p.Ser581Gly