Canonical Allele Identifier: CA645588000
Gene: HNF1A HGNC NCBI

Linked Data

COSMIC: COSM97133

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994250_120994284dup , CM000674.2:g.120994250_120994284dup GRCh38
NC_000012.11:g.121432053_121432087dup , CM000674.1:g.121432053_121432087dup GRCh37
NC_000012.10:g.119916436_119916470dup NCBI36
NG_011731.2:g.20505_20539dup , LRG_522:g.20505_20539dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+50_750+84dup ENSP00000453965.2:n.750+50_750+84dup
ENST00000257555.11:c.800_834dup MANE Select ENSP00000257555.5:p.His279GlyfsTer?
ENST00000257555.10:c.800_834dup ENSP00000257555.4:p.His279GlyfsTer?
ENST00000400024.6:c.800_834dup ENSP00000476181.1:p.His279GlyfsTer?
ENST00000402929.5:n.935_969dup
ENST00000535955.5:n.43-3241_43-3207dup
ENST00000538626.2:n.191-3241_191-3207dup
ENST00000538646.5:c.613_647dup ENSP00000443964.1:p.Thr217ValfsTer?
ENST00000540108.1:c.*240_*274dup ENSP00000445445.1:n.*240_*274dup
ENST00000541395.5:c.800_834dup ENSP00000443112.1:p.His279GlyfsTer?
ENST00000541924.5:c.713+544_713+578dup ENSP00000440361.1:n.713+544_713+578dup
ENST00000543427.5:c.633+624_633+658dup ENSP00000439721.2:n.633+624_633+658dup
ENST00000544413.2:c.800_834dup ENSP00000438804.1:p.His279GlyfsTer?
ENST00000544574.5:c.73-2367_73-2333dup ENSP00000438565.1:n.73-2367_73-2333dup
ENST00000560968.5:c.893+50_893+84dup
ENST00000615446.4:c.-257-2012_-257-1978dup ENSP00000483994.1:n.-257-2012_-257-1978dup
ENST00000617366.4:c.586+671_586+705dup ENSP00000481967.1:n.586+671_586+705dup
NM_000545.5:c.800_834dup , LRG_522t1:c.800_834dup NP_000536.5:p.His279GlyfsTer?
NM_000545.6:c.800_834dup NP_000536.5:p.His279GlyfsTer?
NM_001306179.1:c.800_834dup NP_001293108.1:p.His279GlyfsTer?
XM_005253931.2:c.800_834dup XP_005253988.1:p.His279GlyfsTer?
XM_024449168.1:c.800_834dup XP_024304936.1:p.His279GlyfsTer?
NM_000545.8:c.800_834dup MANE Select NP_000536.6:p.His279GlyfsTer?
NM_001306179.2:c.800_834dup NP_001293108.2:p.His279GlyfsTer?