Canonical Allele Identifier: CA2797726174
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994288_120994289del , CM000674.2:g.120994288_120994289del GRCh38
NC_000012.11:g.121432091_121432092del , CM000674.1:g.121432091_121432092del GRCh37
NC_000012.10:g.119916474_119916475del NCBI36
NG_011731.2:g.20543_20544del , LRG_522:g.20543_20544del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+88_750+89del ENSP00000453965.2:n.750+88_750+89del
ENST00000257555.11:c.838_839del MANE Select ENSP00000257555.5:p.Lys280AlafsTer?
ENST00000257555.10:c.838_839del ENSP00000257555.4:p.Lys280AlafsTer?
ENST00000400024.6:c.838_839del ENSP00000476181.1:p.Lys280AlafsTer?
ENST00000402929.5:n.973_974del
ENST00000535955.5:n.43-3203_43-3202del
ENST00000538626.2:n.191-3203_191-3202del
ENST00000538646.5:c.651_652del ENSP00000443964.1:p.Ser218LeufsTer?
ENST00000540108.1:c.*278_*279del ENSP00000445445.1:n.*278_*279del
ENST00000541395.5:c.838_839del ENSP00000443112.1:p.Lys280AlafsTer?
ENST00000541924.5:c.713+582_713+583del ENSP00000440361.1:n.713+582_713+583del
ENST00000543427.5:c.633+662_633+663del ENSP00000439721.2:n.633+662_633+663del
ENST00000544413.2:c.838_839del ENSP00000438804.1:p.Lys280AlafsTer?
ENST00000544574.5:c.73-2329_73-2328del ENSP00000438565.1:n.73-2329_73-2328del
ENST00000560968.5:c.893+88_893+89del
ENST00000615446.4:c.-257-1974_-257-1973del ENSP00000483994.1:n.-257-1974_-257-1973del
ENST00000617366.4:c.586+709_586+710del ENSP00000481967.1:n.586+709_586+710del
NM_000545.5:c.838_839del , LRG_522t1:c.838_839del NP_000536.5:p.Lys280AlafsTer?
NM_000545.6:c.838_839del NP_000536.5:p.Lys280AlafsTer?
NM_001306179.1:c.838_839del NP_001293108.1:p.Lys280AlafsTer?
XM_005253931.2:c.838_839del XP_005253988.1:p.Lys280AlafsTer?
XM_024449168.1:c.838_839del XP_024304936.1:p.Lys280AlafsTer?
NM_000545.8:c.838_839del MANE Select NP_000536.6:p.Lys280AlafsTer?
NM_001306179.2:c.838_839del NP_001293108.2:p.Lys280AlafsTer?