Canonical Allele Identifier: CA645587988
Gene: HNF1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993639del , CM000674.2:g.120993639del GRCh38
NC_000012.11:g.121431442del , CM000674.1:g.121431442del GRCh37
NC_000012.10:g.119915825del NCBI36
NG_011731.2:g.19894del , LRG_522:g.19894del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.646del ENSP00000453965.2:p.Gln216ArgfsTer17
ENST00000257555.11:c.646del MANE Select ENSP00000257555.5:p.Gln216ArgfsTer17
ENST00000257555.10:c.646del ENSP00000257555.4:p.Gln216ArgfsTer17
ENST00000400024.6:c.646del ENSP00000476181.1:p.Gln216ArgfsTer17
ENST00000402929.5:n.781del
ENST00000535955.5:n.43-3852del
ENST00000538626.2:n.191-3852del
ENST00000538646.5:c.527-525del ENSP00000443964.1:n.527-525del
ENST00000540108.1:c.*86del ENSP00000445445.1:n.*86del
ENST00000541395.5:c.646del ENSP00000443112.1:p.Gln216ArgfsTer17
ENST00000541924.5:c.646del ENSP00000440361.1:p.Gln216ArgfsTer17
ENST00000543427.5:c.633+13del ENSP00000439721.2:n.633+13del
ENST00000544413.2:c.646del ENSP00000438804.1:p.Gln216ArgfsTer17
ENST00000544574.5:c.73-2978del ENSP00000438565.1:n.73-2978del
ENST00000560968.5:c.789del
ENST00000615446.4:c.-257-2623del ENSP00000483994.1:n.-257-2623del
ENST00000617366.4:c.586+60del ENSP00000481967.1:n.586+60del
NM_000545.5:c.646del , LRG_522t1:c.646del NP_000536.5:p.Gln216ArgfsTer17
NM_000545.6:c.646del NP_000536.5:p.Gln216ArgfsTer17
NM_001306179.1:c.646del NP_001293108.1:p.Gln216ArgfsTer17
XM_005253931.2:c.646del XP_005253988.1:p.Gln216ArgfsTer17
XM_024449168.1:c.646del XP_024304936.1:p.Gln216ArgfsTer17
NM_000545.8:c.646del MANE Select NP_000536.6:p.Gln216ArgfsTer17
NM_001306179.2:c.646del NP_001293108.2:p.Gln216ArgfsTer17