Canonical Allele Identifier: CA645589505
Gene: HNF1A HGNC NCBI

Linked Data

COSMIC: COSM24903

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120988982_120988985del , CM000674.2:g.120988982_120988985del GRCh38
NC_000012.11:g.121426785_121426788del , CM000674.1:g.121426785_121426788del GRCh37
NC_000012.10:g.119911168_119911171del NCBI36
NG_011731.2:g.15237_15240del , LRG_522:g.15237_15240del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.476_479del ENSP00000453965.2:p.Arg159ProfsTer26
ENST00000257555.11:c.476_479del MANE Select ENSP00000257555.5:p.Arg159ProfsTer26
ENST00000257555.10:c.476_479del ENSP00000257555.4:p.Arg159ProfsTer26
ENST00000400024.6:c.476_479del ENSP00000476181.1:p.Arg159ProfsTer26
ENST00000402929.5:n.611_614del
ENST00000535955.5:n.43-8509_43-8506del
ENST00000538626.2:n.191-8509_191-8506del
ENST00000538646.5:c.476_479del ENSP00000443964.1:p.Arg159ProfsTer?
ENST00000540108.1:c.327-4538_327-4535del ENSP00000445445.1:n.327-4538_327-4535del
ENST00000541395.5:c.476_479del ENSP00000443112.1:p.Arg159ProfsTer26
ENST00000541924.5:c.476_479del ENSP00000440361.1:p.Arg159ProfsTer26
ENST00000543427.5:c.476_479del ENSP00000439721.2:p.Arg159ProfsTer26
ENST00000544413.2:c.476_479del ENSP00000438804.1:p.Arg159ProfsTer26
ENST00000544574.5:c.73-7635_73-7632del ENSP00000438565.1:n.73-7635_73-7632del
ENST00000560968.5:c.619_622del
ENST00000615446.4:c.-257-7280_-257-7277del ENSP00000483994.1:n.-257-7280_-257-7277del
ENST00000617366.4:c.476_479del ENSP00000481967.1:p.Arg159ProfsTer26
NM_000545.5:c.476_479del , LRG_522t1:c.476_479del NP_000536.5:p.Arg159ProfsTer26
NM_000545.6:c.476_479del NP_000536.5:p.Arg159ProfsTer26
NM_001306179.1:c.476_479del NP_001293108.1:p.Arg159ProfsTer26
XM_005253931.2:c.476_479del XP_005253988.1:p.Arg159ProfsTer26
XM_024449168.1:c.476_479del XP_024304936.1:p.Arg159ProfsTer26
NM_000545.8:c.476_479del MANE Select NP_000536.6:p.Arg159ProfsTer26
NM_001306179.2:c.476_479del NP_001293108.2:p.Arg159ProfsTer26