Canonical Allele Identifier: CA6832052
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs774132898

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997641_120997642del , CM000674.2:g.120997641_120997642del GRCh38
NC_000012.11:g.121435444_121435445del , CM000674.1:g.121435444_121435445del GRCh37
NC_000012.10:g.119919827_119919828del NCBI36
NG_011731.2:g.23896_23897del , LRG_522:g.23896_23897del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*224_*225del ENSP00000453965.2:n.*224_*225del
ENST00000257555.11:c.1477_1478del MANE Select ENSP00000257555.5:p.Met493GlyfsTer?
ENST00000257555.10:c.1477_1478del ENSP00000257555.4:p.Met493GlyfsTer?
ENST00000400024.6:c.1477_1478del ENSP00000476181.1:p.Met493GlyfsTer9
ENST00000402929.5:n.2343_2344del
ENST00000535955.5:n.193_194del
ENST00000538626.2:n.341_342del
ENST00000538646.5:c.*453_*454del ENSP00000443964.1:n.*453_*454del
ENST00000540108.1:c.*917_*918del ENSP00000445445.1:n.*917_*918del
ENST00000541395.5:c.1477_1478del ENSP00000443112.1:p.Met493GlyfsTer?
ENST00000541924.5:c.*491_*492del ENSP00000440361.1:n.*491_*492del
ENST00000543255.1:n.521_522del
ENST00000543427.5:c.940_941del ENSP00000439721.2:p.Met314GlyfsTer?
ENST00000544413.2:c.1477_1478del ENSP00000438804.1:p.Met493GlyfsTer?
ENST00000544574.5:c.*240_*241del ENSP00000438565.1:n.*240_*241del
ENST00000560968.5:c.1294_1295del
ENST00000615446.4:c.265_266del ENSP00000483994.1:p.Met89GlyfsTer?
ENST00000617366.4:c.594_595del ENSP00000481967.1:p.Trp199AlafsTer?
NM_000545.5:c.1477_1478del , LRG_522t1:c.1477_1478del NP_000536.5:p.Met493GlyfsTer?
NM_000545.6:c.1477_1478del NP_000536.5:p.Met493GlyfsTer?
NM_001306179.1:c.1477_1478del NP_001293108.1:p.Met493GlyfsTer?
XM_005253931.2:c.1477_1478del XP_005253988.1:p.Met493GlyfsTer?
XM_024449168.1:c.1477_1478del XP_024304936.1:p.Met493GlyfsTer?
NM_000545.8:c.1477_1478del MANE Select NP_000536.6:p.Met493GlyfsTer?
NM_001306179.2:c.1477_1478del NP_001293108.2:p.Met493GlyfsTer?