Canonical Allele Identifier: CA645587987
Gene: HNF1A HGNC NCBI

Linked Data

COSMIC: COSM46433

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993611_120993621del , CM000674.2:g.120993611_120993621del GRCh38
NC_000012.11:g.121431414_121431424del , CM000674.1:g.121431414_121431424del GRCh37
NC_000012.10:g.119915797_119915807del NCBI36
NG_011731.2:g.19866_19876del , LRG_522:g.19866_19876del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.618_628del ENSP00000453965.2:p.Trp206CysfsTer10
ENST00000257555.11:c.618_628del MANE Select ENSP00000257555.5:p.Trp206CysfsTer10
ENST00000257555.10:c.618_628del ENSP00000257555.4:p.Trp206CysfsTer10
ENST00000400024.6:c.618_628del ENSP00000476181.1:p.Trp206CysfsTer10
ENST00000402929.5:n.753_763del
ENST00000535955.5:n.43-3880_43-3870del
ENST00000538626.2:n.191-3880_191-3870del
ENST00000538646.5:c.527-553_527-543del ENSP00000443964.1:n.527-553_527-543del
ENST00000540108.1:c.*58_*68del ENSP00000445445.1:n.*58_*68del
ENST00000541395.5:c.618_628del ENSP00000443112.1:p.Trp206CysfsTer10
ENST00000541924.5:c.618_628del ENSP00000440361.1:p.Trp206CysfsTer10
ENST00000543427.5:c.618_628del ENSP00000439721.2:p.Trp206CysfsTer30
ENST00000544413.2:c.618_628del ENSP00000438804.1:p.Trp206CysfsTer10
ENST00000544574.5:c.73-3006_73-2996del ENSP00000438565.1:n.73-3006_73-2996del
ENST00000560968.5:c.761_771del
ENST00000615446.4:c.-257-2651_-257-2641del ENSP00000483994.1:n.-257-2651_-257-2641del
ENST00000617366.4:c.586+32_586+42del ENSP00000481967.1:n.586+32_586+42del
NM_000545.5:c.618_628del , LRG_522t1:c.618_628del NP_000536.5:p.Trp206CysfsTer10
NM_000545.6:c.618_628del NP_000536.5:p.Trp206CysfsTer10
NM_001306179.1:c.618_628del NP_001293108.1:p.Trp206CysfsTer10
XM_005253931.2:c.618_628del XP_005253988.1:p.Trp206CysfsTer10
XM_024449168.1:c.618_628del XP_024304936.1:p.Trp206CysfsTer10
NM_000545.8:c.618_628del MANE Select NP_000536.6:p.Trp206CysfsTer10
NM_001306179.2:c.618_628del NP_001293108.2:p.Trp206CysfsTer10