Canonical Allele Identifier: CA2797726557
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997586_120997587del , CM000674.2:g.120997586_120997587del GRCh38
NC_000012.11:g.121435389_121435390del , CM000674.1:g.121435389_121435390del GRCh37
NC_000012.10:g.119919772_119919773del NCBI36
NG_011731.2:g.23841_23842del , LRG_522:g.23841_23842del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*169_*170del ENSP00000453965.2:n.*169_*170del
ENST00000257555.11:c.1422_1423del MANE Select ENSP00000257555.5:p.Gln474HisfsTer?
ENST00000257555.10:c.1422_1423del ENSP00000257555.4:p.Gln474HisfsTer?
ENST00000400024.6:c.1422_1423del ENSP00000476181.1:p.Gln474HisfsTer28
ENST00000402929.5:n.2288_2289del
ENST00000535955.5:n.138_139del
ENST00000538626.2:n.286_287del
ENST00000538646.5:c.*398_*399del ENSP00000443964.1:n.*398_*399del
ENST00000540108.1:c.*862_*863del ENSP00000445445.1:n.*862_*863del
ENST00000541395.5:c.1422_1423del ENSP00000443112.1:p.Gln474HisfsTer?
ENST00000541924.5:c.*436_*437del ENSP00000440361.1:n.*436_*437del
ENST00000543255.1:n.466_467del
ENST00000543427.5:c.885_886del ENSP00000439721.2:p.Gln295HisfsTer?
ENST00000544413.2:c.1422_1423del ENSP00000438804.1:p.Gln474HisfsTer?
ENST00000544574.5:c.*185_*186del ENSP00000438565.1:n.*185_*186del
ENST00000560968.5:c.1239_1240del
ENST00000615446.4:c.210_211del ENSP00000483994.1:p.Gln70HisfsTer?
ENST00000617366.4:c.587-48_587-47del ENSP00000481967.1:n.587-48_587-47del
NM_000545.5:c.1422_1423del , LRG_522t1:c.1422_1423del NP_000536.5:p.Gln474HisfsTer?
NM_000545.6:c.1422_1423del NP_000536.5:p.Gln474HisfsTer?
NM_001306179.1:c.1422_1423del NP_001293108.1:p.Gln474HisfsTer?
XM_005253931.2:c.1422_1423del XP_005253988.1:p.Gln474HisfsTer?
XM_024449168.1:c.1422_1423del XP_024304936.1:p.Gln474HisfsTer?
NM_000545.8:c.1422_1423del MANE Select NP_000536.6:p.Gln474HisfsTer?
NM_001306179.2:c.1422_1423del NP_001293108.2:p.Gln474HisfsTer?