Canonical Allele Identifier: CA2695217500
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994369del , CM000674.2:g.120994369del GRCh38
NC_000012.11:g.121432172del , CM000674.1:g.121432172del GRCh37
NC_000012.10:g.119916555del NCBI36
NG_011731.2:g.20624del , LRG_522:g.20624del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+169del ENSP00000453965.2:n.750+169del
ENST00000257555.11:c.919del MANE Select ENSP00000257555.5:p.Leu307CysfsTer?
ENST00000257555.10:c.919del ENSP00000257555.4:p.Leu307CysfsTer?
ENST00000400024.6:c.919del ENSP00000476181.1:p.Leu307CysfsTer?
ENST00000402929.5:n.1054del
ENST00000535955.5:n.43-3122del
ENST00000538626.2:n.191-3122del
ENST00000538646.5:c.732del ENSP00000443964.1:p.Cys245AlafsTer9
ENST00000540108.1:c.*359del ENSP00000445445.1:n.*359del
ENST00000541395.5:c.919del ENSP00000443112.1:p.Leu307CysfsTer?
ENST00000541924.5:c.713+663del ENSP00000440361.1:n.713+663del
ENST00000543427.5:c.633+743del ENSP00000439721.2:n.633+743del
ENST00000544413.2:c.919del ENSP00000438804.1:p.Leu307CysfsTer?
ENST00000544574.5:c.73-2248del ENSP00000438565.1:n.73-2248del
ENST00000560968.5:c.893+169del
ENST00000615446.4:c.-257-1893del ENSP00000483994.1:n.-257-1893del
ENST00000617366.4:c.586+790del ENSP00000481967.1:n.586+790del
NM_000545.5:c.919del , LRG_522t1:c.919del NP_000536.5:p.Leu307CysfsTer?
NM_000545.6:c.919del NP_000536.5:p.Leu307CysfsTer?
NM_001306179.1:c.919del NP_001293108.1:p.Leu307CysfsTer?
XM_005253931.2:c.919del XP_005253988.1:p.Leu307CysfsTer?
XM_024449168.1:c.919del XP_024304936.1:p.Leu307CysfsTer?
NM_000545.8:c.919del MANE Select NP_000536.6:p.Leu307CysfsTer?
NM_001306179.2:c.919del NP_001293108.2:p.Leu307CysfsTer?