Canonical Allele Identifier: CA386970347
Gene: HNF1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.120997642_120997643del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997642_120997643del , CM000674.2:g.120997642_120997643del GRCh38
NC_000012.11:g.121435445_121435446del , CM000674.1:g.121435445_121435446del GRCh37
NC_000012.10:g.119919828_119919829del NCBI36
NG_011731.2:g.23897_23898del , LRG_522:g.23897_23898del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*225_*226del ENSP00000453965.2:n.*225_*226del
ENST00000257555.11:c.1478_1479del MANE Select ENSP00000257555.5:p.Met493SerfsTer?
ENST00000257555.10:c.1478_1479del ENSP00000257555.4:p.Met493SerfsTer?
ENST00000400024.6:c.1478_1479del ENSP00000476181.1:p.Met493SerfsTer9
ENST00000402929.5:n.2344_2345del
ENST00000535955.5:n.194_195del
ENST00000538626.2:n.342_343del
ENST00000538646.5:c.*454_*455del ENSP00000443964.1:n.*454_*455del
ENST00000540108.1:c.*918_*919del ENSP00000445445.1:n.*918_*919del
ENST00000541395.5:c.1478_1479del ENSP00000443112.1:p.Met493SerfsTer?
ENST00000541924.5:c.*492_*493del ENSP00000440361.1:n.*492_*493del
ENST00000543255.1:n.522_523del
ENST00000543427.5:c.941_942del ENSP00000439721.2:p.Met314SerfsTer?
ENST00000544413.2:c.1478_1479del ENSP00000438804.1:p.Met493SerfsTer?
ENST00000544574.5:c.*241_*242del ENSP00000438565.1:n.*241_*242del
ENST00000560968.5:c.1295_1296del
ENST00000615446.4:c.266_267del ENSP00000483994.1:p.Met89SerfsTer?
ENST00000617366.4:c.595_596del ENSP00000481967.1:p.Trp199AlafsTer?
NM_000545.5:c.1478_1479del , LRG_522t1:c.1478_1479del NP_000536.5:p.Met493SerfsTer?
NM_000545.6:c.1478_1479del NP_000536.5:p.Met493SerfsTer?
NM_001306179.1:c.1478_1479del NP_001293108.1:p.Met493SerfsTer?
XM_005253931.2:c.1478_1479del XP_005253988.1:p.Met493SerfsTer?
XM_024449168.1:c.1478_1479del XP_024304936.1:p.Met493SerfsTer?
NM_000545.8:c.1478_1479del MANE Select NP_000536.6:p.Met493SerfsTer?
NM_001306179.2:c.1478_1479del NP_001293108.2:p.Met493SerfsTer?
Search 100 bp 5'
Search 100 bp 3'