Canonical Allele Identifier: CA2832549852
Gene: HNF1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997662dup , CM000674.2:g.120997662dup GRCh38
NC_000012.11:g.121435465dup , CM000674.1:g.121435465dup GRCh37
NC_000012.10:g.119919848dup NCBI36
NG_011731.2:g.23917dup , LRG_522:g.23917dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*245dup ENSP00000453965.2:n.*245dup
ENST00000257555.11:c.1498dup MANE Select ENSP00000257555.5:p.His500ProfsTer?
ENST00000257555.10:c.1498dup ENSP00000257555.4:p.His500ProfsTer?
ENST00000400024.6:c.1498dup ENSP00000476181.1:p.His500ProfsTer3
ENST00000402929.5:n.2364dup
ENST00000535955.5:n.214dup
ENST00000538626.2:n.362dup
ENST00000538646.5:c.*474dup ENSP00000443964.1:n.*474dup
ENST00000540108.1:c.*938dup ENSP00000445445.1:n.*938dup
ENST00000541395.5:c.1498dup ENSP00000443112.1:p.His500ProfsTer?
ENST00000541924.5:c.*512dup ENSP00000440361.1:n.*512dup
ENST00000543255.1:n.542dup
ENST00000543427.5:c.961dup ENSP00000439721.2:p.His321ProfsTer?
ENST00000544413.2:c.1498dup ENSP00000438804.1:p.His500ProfsTer?
ENST00000544574.5:c.*261dup ENSP00000438565.1:n.*261dup
ENST00000560968.5:c.1315dup
ENST00000615446.4:c.286dup ENSP00000483994.1:p.His96ProfsTer?
ENST00000617366.4:c.615dup ENSP00000481967.1:p.Thr206HisfsTer?
NM_000545.5:c.1498dup , LRG_522t1:c.1498dup NP_000536.5:p.His500ProfsTer?
NM_000545.6:c.1498dup NP_000536.5:p.His500ProfsTer?
NM_001306179.1:c.1498dup NP_001293108.1:p.His500ProfsTer?
XM_005253931.2:c.1498dup XP_005253988.1:p.His500ProfsTer?
XM_024449168.1:c.1498dup XP_024304936.1:p.His500ProfsTer?
NM_000545.8:c.1498dup MANE Select NP_000536.6:p.His500ProfsTer?
NM_001306179.2:c.1498dup NP_001293108.2:p.His500ProfsTer?
Search 100 bp 5'
Search 100 bp 3'