Canonical Allele Identifier: CA891843852
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 585219
dbSNP Id: rs1565885935

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994314_120994347del , CM000674.2:g.120994314_120994347del GRCh38
NC_000012.11:g.121432117_121432150del , CM000674.1:g.121432117_121432150del GRCh37
NC_000012.10:g.119916500_119916533del NCBI36
NG_011731.2:g.20569_20602del , LRG_522:g.20569_20602del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+114_750+147del ENSP00000453965.2:n.750+114_750+147del
ENST00000257555.11:c.864_897del MANE Select ENSP00000257555.5:p.Pro290LeufsTer?
ENST00000257555.10:c.864_897del ENSP00000257555.4:p.Pro290LeufsTer?
ENST00000400024.6:c.864_897del ENSP00000476181.1:p.Pro290LeufsTer?
ENST00000402929.5:n.999_1032del
ENST00000535955.5:n.43-3177_43-3144del
ENST00000538626.2:n.191-3177_191-3144del
ENST00000538646.5:c.677_710del ENSP00000443964.1:p.Gly226AlafsTer17
ENST00000540108.1:c.*304_*337del ENSP00000445445.1:n.*304_*337del
ENST00000541395.5:c.864_897del ENSP00000443112.1:p.Pro290LeufsTer?
ENST00000541924.5:c.713+608_713+641del ENSP00000440361.1:n.713+608_713+641del
ENST00000543427.5:c.633+688_633+721del ENSP00000439721.2:n.633+688_633+721del
ENST00000544413.2:c.864_897del ENSP00000438804.1:p.Pro290LeufsTer?
ENST00000544574.5:c.73-2303_73-2270del ENSP00000438565.1:n.73-2303_73-2270del
ENST00000560968.5:c.893+114_893+147del
ENST00000615446.4:c.-257-1948_-257-1915del ENSP00000483994.1:n.-257-1948_-257-1915del
ENST00000617366.4:c.586+735_586+768del ENSP00000481967.1:n.586+735_586+768del
NM_000545.5:c.864_897del , LRG_522t1:c.864_897del NP_000536.5:p.Pro290LeufsTer?
NM_000545.6:c.864_897del NP_000536.5:p.Pro290LeufsTer?
NM_001306179.1:c.864_897del NP_001293108.1:p.Pro290LeufsTer?
XM_005253931.2:c.864_897del XP_005253988.1:p.Pro290LeufsTer?
XM_024449168.1:c.864_897del XP_024304936.1:p.Pro290LeufsTer?
NM_000545.8:c.864_897del MANE Select NP_000536.6:p.Pro290LeufsTer?
NM_001306179.2:c.864_897del NP_001293108.2:p.Pro290LeufsTer?