Canonical Allele Identifier: CA915946724
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 805635
dbSNP Id: rs1593054210

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120988830_120988832del , CM000674.2:g.120988830_120988832del GRCh38
NC_000012.11:g.121426633_121426635del , CM000674.1:g.121426633_121426635del GRCh37
NC_000012.10:g.119911016_119911018del NCBI36
NG_011731.2:g.15085_15087del , LRG_522:g.15085_15087del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.327-3_327-1del ENSP00000453965.2:n.327-3_327-1del
ENST00000257555.11:c.327-3_327-1del MANE Select ENSP00000257555.5:n.327-3_327-1del
ENST00000257555.10:c.327-3_327-1del ENSP00000257555.4:n.327-3_327-1del
ENST00000400024.6:c.327-3_327-1del ENSP00000476181.1:n.327-3_327-1del
ENST00000402929.5:n.462-3_462-1del
ENST00000535955.5:n.43-8661_43-8659del
ENST00000538626.2:n.191-8661_191-8659del
ENST00000538646.5:c.327-3_327-1del ENSP00000443964.1:n.327-3_327-1del
ENST00000540108.1:c.327-4690_327-4688del ENSP00000445445.1:n.327-4690_327-4688del
ENST00000541395.5:c.327-3_327-1del ENSP00000443112.1:n.327-3_327-1del
ENST00000541924.5:c.327-3_327-1del ENSP00000440361.1:n.327-3_327-1del
ENST00000543427.5:c.327-3_327-1del ENSP00000439721.2:n.327-3_327-1del
ENST00000544413.2:c.327-3_327-1del ENSP00000438804.1:n.327-3_327-1del
ENST00000544574.5:c.73-7787_73-7785del ENSP00000438565.1:n.73-7787_73-7785del
ENST00000560968.5:c.470-3_470-1del
ENST00000615446.4:c.-257-7432_-257-7430del ENSP00000483994.1:n.-257-7432_-257-7430del
ENST00000617366.4:c.327-3_327-1del ENSP00000481967.1:n.327-3_327-1del
NM_000545.5:c.327-3_327-1del , LRG_522t1:c.327-3_327-1del NP_000536.5:n.327-3_327-1del
NM_000545.6:c.327-3_327-1del NP_000536.5:n.327-3_327-1del
NM_001306179.1:c.327-3_327-1del NP_001293108.1:n.327-3_327-1del
XM_005253931.2:c.327-3_327-1del XP_005253988.1:n.327-3_327-1del
XM_024449168.1:c.327-3_327-1del XP_024304936.1:n.327-3_327-1del
NM_000545.8:c.327-3_327-1del MANE Select NP_000536.6:n.327-3_327-1del
NM_001306179.2:c.327-3_327-1del NP_001293108.2:n.327-3_327-1del