Canonical Allele Identifier: CA2739291751
Gene: HNF1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120988999del , CM000674.2:g.120988999del GRCh38
NC_000012.11:g.121426802del , CM000674.1:g.121426802del GRCh37
NC_000012.10:g.119911185del NCBI36
NG_011731.2:g.15254del , LRG_522:g.15254del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.493del ENSP00000453965.2:p.Trp165GlyfsTer21
ENST00000257555.11:c.493del MANE Select ENSP00000257555.5:p.Trp165GlyfsTer21
ENST00000257555.10:c.493del ENSP00000257555.4:p.Trp165GlyfsTer21
ENST00000400024.6:c.493del ENSP00000476181.1:p.Trp165GlyfsTer21
ENST00000402929.5:n.628del
ENST00000535955.5:n.43-8492del
ENST00000538626.2:n.191-8492del
ENST00000538646.5:c.493del ENSP00000443964.1:p.Trp165GlyfsTer?
ENST00000540108.1:c.327-4521del ENSP00000445445.1:n.327-4521del
ENST00000541395.5:c.493del ENSP00000443112.1:p.Trp165GlyfsTer21
ENST00000541924.5:c.493del ENSP00000440361.1:p.Trp165GlyfsTer21
ENST00000543427.5:c.493del ENSP00000439721.2:p.Trp165GlyfsTer21
ENST00000544413.2:c.493del ENSP00000438804.1:p.Trp165GlyfsTer21
ENST00000544574.5:c.73-7618del ENSP00000438565.1:n.73-7618del
ENST00000560968.5:c.636del
ENST00000615446.4:c.-257-7263del ENSP00000483994.1:n.-257-7263del
ENST00000617366.4:c.493del ENSP00000481967.1:p.Trp165GlyfsTer21
NM_000545.5:c.493del , LRG_522t1:c.493del NP_000536.5:p.Trp165GlyfsTer21
NM_000545.6:c.493del NP_000536.5:p.Trp165GlyfsTer21
NM_001306179.1:c.493del NP_001293108.1:p.Trp165GlyfsTer21
XM_005253931.2:c.493del XP_005253988.1:p.Trp165GlyfsTer21
XM_024449168.1:c.493del XP_024304936.1:p.Trp165GlyfsTer21
NM_000545.8:c.493del MANE Select NP_000536.6:p.Trp165GlyfsTer21
NM_001306179.2:c.493del NP_001293108.2:p.Trp165GlyfsTer21
Search 100 bp 5'
Search 100 bp 3'