Canonical Allele Identifier: CA645588004
Gene: HNF1A HGNC NCBI

Linked Data

COSMIC: COSM24908

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994279_120994287del , CM000674.2:g.120994279_120994287del GRCh38
NC_000012.11:g.121432082_121432090del , CM000674.1:g.121432082_121432090del GRCh37
NC_000012.10:g.119916465_119916473del NCBI36
NG_011731.2:g.20534_20542del , LRG_522:g.20534_20542del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+79_750+87del ENSP00000453965.2:n.750+79_750+87del
ENST00000257555.11:c.829_837del MANE Select ENSP00000257555.5:p.Phe277_His279del
ENST00000257555.10:c.829_837del ENSP00000257555.4:p.Phe277_His279del
ENST00000400024.6:c.829_837del ENSP00000476181.1:p.Phe277_His279del
ENST00000402929.5:n.964_972del
ENST00000535955.5:n.43-3212_43-3204del
ENST00000538626.2:n.191-3212_191-3204del
ENST00000538646.5:c.642_650del ENSP00000443964.1:p.Ser215_Thr217del
ENST00000540108.1:c.*269_*277del ENSP00000445445.1:n.*269_*277del
ENST00000541395.5:c.829_837del ENSP00000443112.1:p.Phe277_His279del
ENST00000541924.5:c.713+573_713+581del ENSP00000440361.1:n.713+573_713+581del
ENST00000543427.5:c.633+653_633+661del ENSP00000439721.2:n.633+653_633+661del
ENST00000544413.2:c.829_837del ENSP00000438804.1:p.Phe277_His279del
ENST00000544574.5:c.73-2338_73-2330del ENSP00000438565.1:n.73-2338_73-2330del
ENST00000560968.5:c.893+79_893+87del
ENST00000615446.4:c.-257-1983_-257-1975del ENSP00000483994.1:n.-257-1983_-257-1975del
ENST00000617366.4:c.586+700_586+708del ENSP00000481967.1:n.586+700_586+708del
NM_000545.5:c.829_837del , LRG_522t1:c.829_837del NP_000536.5:p.Phe277_His279del
NM_000545.6:c.829_837del NP_000536.5:p.Phe277_His279del
NM_001306179.1:c.829_837del NP_001293108.1:p.Phe277_His279del
XM_005253931.2:c.829_837del XP_005253988.1:p.Phe277_His279del
XM_024449168.1:c.829_837del XP_024304936.1:p.Phe277_His279del
NM_000545.8:c.829_837del MANE Select NP_000536.6:p.Phe277_His279del
NM_001306179.2:c.829_837del NP_001293108.2:p.Phe277_His279del