Canonical Allele Identifier: CA2739892574
Gene: HNF1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997541del , CM000674.2:g.120997541del GRCh38
NC_000012.11:g.121435344del , CM000674.1:g.121435344del GRCh37
NC_000012.10:g.119919727del NCBI36
NG_011731.2:g.23796del , LRG_522:g.23796del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*124del ENSP00000453965.2:n.*124del
ENST00000257555.11:c.1377del MANE Select ENSP00000257555.5:p.Gln460SerfsTer25
ENST00000257555.10:c.1377del ENSP00000257555.4:p.Gln460SerfsTer25
ENST00000400024.6:c.1377del ENSP00000476181.1:p.Gln460SerfsTer25
ENST00000402929.5:n.2243del
ENST00000535955.5:n.93del
ENST00000538626.2:n.241del
ENST00000538646.5:c.*353del ENSP00000443964.1:n.*353del
ENST00000540108.1:c.*817del ENSP00000445445.1:n.*817del
ENST00000541395.5:c.1377del ENSP00000443112.1:p.Gln460SerfsTer25
ENST00000541924.5:c.*391del ENSP00000440361.1:n.*391del
ENST00000543255.1:n.421del
ENST00000543427.5:c.840del ENSP00000439721.2:p.Gln281SerfsTer25
ENST00000544413.2:c.1377del ENSP00000438804.1:p.Gln460SerfsTer25
ENST00000544574.5:c.*140del ENSP00000438565.1:n.*140del
ENST00000560968.5:c.1194del
ENST00000615446.4:c.165del ENSP00000483994.1:p.Gln56SerfsTer25
ENST00000617366.4:c.587-93del ENSP00000481967.1:n.587-93del
NM_000545.5:c.1377del , LRG_522t1:c.1377del NP_000536.5:p.Gln460SerfsTer25
NM_000545.6:c.1377del NP_000536.5:p.Gln460SerfsTer25
NM_001306179.1:c.1377del NP_001293108.1:p.Gln460SerfsTer25
XM_005253931.2:c.1377del XP_005253988.1:p.Gln460SerfsTer25
XM_024449168.1:c.1377del XP_024304936.1:p.Gln460SerfsTer25
NM_000545.8:c.1377del MANE Select NP_000536.6:p.Gln460SerfsTer25
NM_001306179.2:c.1377del NP_001293108.2:p.Gln460SerfsTer25
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