Canonical Allele Identifier: CA2727253812
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135847331
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997479del , CM000674.2:g.120997479del GRCh38
NC_000012.11:g.121435282del , CM000674.1:g.121435282del GRCh37
NC_000012.10:g.119919665del NCBI36
NG_011731.2:g.23734del , LRG_522:g.23734del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*62del ENSP00000453965.2:n.*62del
ENST00000257555.11:c.1315del MANE Select ENSP00000257555.5:p.Ala439ProfsTer18
ENST00000257555.10:c.1315del ENSP00000257555.4:p.Ala439ProfsTer18
ENST00000400024.6:c.1315del ENSP00000476181.1:p.Ala439ProfsTer18
ENST00000402929.5:n.2181del
ENST00000535955.5:n.43-12del
ENST00000538626.2:n.191-12del
ENST00000538646.5:c.*291del ENSP00000443964.1:n.*291del
ENST00000540108.1:c.*755del ENSP00000445445.1:n.*755del
ENST00000541395.5:c.1315del ENSP00000443112.1:p.Ala439ProfsTer18
ENST00000541924.5:c.*329del ENSP00000440361.1:n.*329del
ENST00000543255.1:n.359del
ENST00000543427.5:c.778del ENSP00000439721.2:p.Ala260ProfsTer18
ENST00000544413.2:c.1315del ENSP00000438804.1:p.Ala439ProfsTer18
ENST00000544574.5:c.*78del ENSP00000438565.1:n.*78del
ENST00000560968.5:c.1132del
ENST00000615446.4:c.103del ENSP00000483994.1:p.Ala35ProfsTer18
ENST00000617366.4:c.587-155del ENSP00000481967.1:n.587-155del
NM_000545.5:c.1315del , LRG_522t1:c.1315del NP_000536.5:p.Ala439ProfsTer18
NM_000545.6:c.1315del NP_000536.5:p.Ala439ProfsTer18
NM_001306179.1:c.1315del NP_001293108.1:p.Ala439ProfsTer18
XM_005253931.2:c.1315del XP_005253988.1:p.Ala439ProfsTer18
XM_024449168.1:c.1315del XP_024304936.1:p.Ala439ProfsTer18
NM_000545.8:c.1315del MANE Select NP_000536.6:p.Ala439ProfsTer18
NM_001306179.2:c.1315del NP_001293108.2:p.Ala439ProfsTer18
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