Canonical Allele Identifier: CA645588001
Gene: HNF1A HGNC NCBI

Linked Data

COSMIC: COSM24914

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994261_120994268del , CM000674.2:g.120994261_120994268del GRCh38
NC_000012.11:g.121432064_121432071del , CM000674.1:g.121432064_121432071del GRCh37
NC_000012.10:g.119916447_119916454del NCBI36
NG_011731.2:g.20516_20523del , LRG_522:g.20516_20523del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+61_750+68del ENSP00000453965.2:n.750+61_750+68del
ENST00000257555.11:c.811_818del MANE Select ENSP00000257555.5:p.Lys273SerfsTer?
ENST00000257555.10:c.811_818del ENSP00000257555.4:p.Lys273SerfsTer?
ENST00000400024.6:c.811_818del ENSP00000476181.1:p.Lys273SerfsTer?
ENST00000402929.5:n.946_953del
ENST00000535955.5:n.43-3230_43-3223del
ENST00000538626.2:n.191-3230_191-3223del
ENST00000538646.5:c.624_631del ENSP00000443964.1:p.Gly209GlufsTer?
ENST00000540108.1:c.*251_*258del ENSP00000445445.1:n.*251_*258del
ENST00000541395.5:c.811_818del ENSP00000443112.1:p.Lys273SerfsTer?
ENST00000541924.5:c.713+555_713+562del ENSP00000440361.1:n.713+555_713+562del
ENST00000543427.5:c.633+635_633+642del ENSP00000439721.2:n.633+635_633+642del
ENST00000544413.2:c.811_818del ENSP00000438804.1:p.Lys273SerfsTer?
ENST00000544574.5:c.73-2356_73-2349del ENSP00000438565.1:n.73-2356_73-2349del
ENST00000560968.5:c.893+61_893+68del
ENST00000615446.4:c.-257-2001_-257-1994del ENSP00000483994.1:n.-257-2001_-257-1994del
ENST00000617366.4:c.586+682_586+689del ENSP00000481967.1:n.586+682_586+689del
NM_000545.5:c.811_818del , LRG_522t1:c.811_818del NP_000536.5:p.Lys273SerfsTer?
NM_000545.6:c.811_818del NP_000536.5:p.Lys273SerfsTer?
NM_001306179.1:c.811_818del NP_001293108.1:p.Lys273SerfsTer?
XM_005253931.2:c.811_818del XP_005253988.1:p.Lys273SerfsTer?
XM_024449168.1:c.811_818del XP_024304936.1:p.Lys273SerfsTer?
NM_000545.8:c.811_818del MANE Select NP_000536.6:p.Lys273SerfsTer?
NM_001306179.2:c.811_818del NP_001293108.2:p.Lys273SerfsTer?