Canonical Allele Identifier: CA2621391135
Gene: HNF1A HGNC NCBI

Linked Data

gnomAD v4: 12-120997657-GC-G
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*245del ENSP00000453965.2:n.*245del
ENST00000257555.11:c.1498del MANE Select ENSP00000257555.5:p.His500ThrfsTer?
ENST00000257555.10:c.1498del ENSP00000257555.4:p.His500ThrfsTer?
ENST00000400024.6:c.1498del ENSP00000476181.1:p.His500ThrfsTer?
ENST00000402929.5:n.2364del
ENST00000535955.5:n.214del
ENST00000538626.2:n.362del
ENST00000538646.5:c.*474del ENSP00000443964.1:n.*474del
ENST00000540108.1:c.*938del ENSP00000445445.1:n.*938del
ENST00000541395.5:c.1498del ENSP00000443112.1:p.His500ThrfsTer?
ENST00000541924.5:c.*512del ENSP00000440361.1:n.*512del
ENST00000543255.1:n.542del
ENST00000543427.5:c.961del ENSP00000439721.2:p.His321ThrfsTer?
ENST00000544413.2:c.1498del ENSP00000438804.1:p.His500ThrfsTer?
ENST00000544574.5:c.*261del ENSP00000438565.1:n.*261del
ENST00000560968.5:c.1315del
ENST00000615446.4:c.286del ENSP00000483994.1:p.His96ThrfsTer?
ENST00000617366.4:c.615del ENSP00000481967.1:p.Thr206ArgfsTer?
NM_000545.5:c.1498del , LRG_522t1:c.1498del NP_000536.5:p.His500ThrfsTer?
NM_000545.6:c.1498del NP_000536.5:p.His500ThrfsTer?
NM_001306179.1:c.1498del NP_001293108.1:p.His500ThrfsTer?
XM_005253931.2:c.1498del XP_005253988.1:p.His500ThrfsTer?
XM_024449168.1:c.1498del XP_024304936.1:p.His500ThrfsTer?
NM_000545.8:c.1498del MANE Select NP_000536.6:p.His500ThrfsTer?
NM_001306179.2:c.1498del NP_001293108.2:p.His500ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'