Canonical Allele Identifier: CA2580085891
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1700667

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997651_120997658del , CM000674.2:g.120997651_120997658del GRCh38
NC_000012.11:g.121435454_121435461del , CM000674.1:g.121435454_121435461del GRCh37
NC_000012.10:g.119919837_119919844del NCBI36
NG_011731.2:g.23906_23913del , LRG_522:g.23906_23913del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*234_*241del ENSP00000453965.2:n.*234_*241del
ENST00000257555.11:c.1487_1494del MANE Select ENSP00000257555.5:p.Leu496ProfsTer?
ENST00000257555.10:c.1487_1494del ENSP00000257555.4:p.Leu496ProfsTer?
ENST00000400024.6:c.1487_1494del ENSP00000476181.1:p.Leu496ProfsTer4
ENST00000402929.5:n.2353_2360del
ENST00000535955.5:n.203_210del
ENST00000538626.2:n.351_358del
ENST00000538646.5:c.*463_*470del ENSP00000443964.1:n.*463_*470del
ENST00000540108.1:c.*927_*934del ENSP00000445445.1:n.*927_*934del
ENST00000541395.5:c.1487_1494del ENSP00000443112.1:p.Leu496ProfsTer?
ENST00000541924.5:c.*501_*508del ENSP00000440361.1:n.*501_*508del
ENST00000543255.1:n.531_538del
ENST00000543427.5:c.950_957del ENSP00000439721.2:p.Leu317ProfsTer?
ENST00000544413.2:c.1487_1494del ENSP00000438804.1:p.Leu496ProfsTer?
ENST00000544574.5:c.*250_*257del ENSP00000438565.1:n.*250_*257del
ENST00000560968.5:c.1304_1311del
ENST00000615446.4:c.275_282del ENSP00000483994.1:p.Leu92ProfsTer?
ENST00000617366.4:c.604_611del ENSP00000481967.1:p.Cys202ProfsTer?
NM_000545.5:c.1487_1494del , LRG_522t1:c.1487_1494del NP_000536.5:p.Leu496ProfsTer?
NM_000545.6:c.1487_1494del NP_000536.5:p.Leu496ProfsTer?
NM_001306179.1:c.1487_1494del NP_001293108.1:p.Leu496ProfsTer?
XM_005253931.2:c.1487_1494del XP_005253988.1:p.Leu496ProfsTer?
XM_024449168.1:c.1487_1494del XP_024304936.1:p.Leu496ProfsTer?
NM_000545.8:c.1487_1494del MANE Select NP_000536.6:p.Leu496ProfsTer?
NM_001306179.2:c.1487_1494del NP_001293108.2:p.Leu496ProfsTer?