Canonical Allele Identifier: CA2573051297
Gene: HNF1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993542_120993545del , CM000674.2:g.120993542_120993545del GRCh38
NC_000012.11:g.121431345_121431348del , CM000674.1:g.121431345_121431348del GRCh37
NC_000012.10:g.119915728_119915731del NCBI36
NG_011731.2:g.19797_19800del , LRG_522:g.19797_19800del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.549_552del ENSP00000453965.2:p.Gly184Ter
ENST00000257555.11:c.549_552del MANE Select ENSP00000257555.5:p.Gly184Ter
ENST00000257555.10:c.549_552del ENSP00000257555.4:p.Gly184Ter
ENST00000400024.6:c.549_552del ENSP00000476181.1:p.Gly184Ter
ENST00000402929.5:n.684_687del
ENST00000535955.5:n.43-3949_43-3946del
ENST00000538626.2:n.191-3949_191-3946del
ENST00000538646.5:c.527-622_527-619del ENSP00000443964.1:n.527-622_527-619del
ENST00000540108.1:c.349_352del ENSP00000445445.1:p.Arg117LeufsTer?
ENST00000541395.5:c.549_552del ENSP00000443112.1:p.Gly184Ter
ENST00000541924.5:c.549_552del ENSP00000440361.1:p.Gly184Ter
ENST00000543427.5:c.549_552del ENSP00000439721.2:p.Gly184Ter
ENST00000544413.2:c.549_552del ENSP00000438804.1:p.Gly184Ter
ENST00000544574.5:c.73-3075_73-3072del ENSP00000438565.1:n.73-3075_73-3072del
ENST00000560968.5:c.692_695del
ENST00000615446.4:c.-257-2720_-257-2717del ENSP00000483994.1:n.-257-2720_-257-2717del
ENST00000617366.4:c.549_552del ENSP00000481967.1:p.Gly184Ter
NM_000545.5:c.549_552del , LRG_522t1:c.549_552del NP_000536.5:p.Gly184Ter
NM_000545.6:c.549_552del NP_000536.5:p.Gly184Ter
NM_001306179.1:c.549_552del NP_001293108.1:p.Gly184Ter
XM_005253931.2:c.549_552del XP_005253988.1:p.Gly184Ter
XM_024449168.1:c.549_552del XP_024304936.1:p.Gly184Ter
NM_000545.8:c.549_552del MANE Select NP_000536.6:p.Gly184Ter
NM_001306179.2:c.549_552del NP_001293108.2:p.Gly184Ter
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