Canonical Allele Identifier: CA2573105962
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997510_120997511del , CM000674.2:g.120997510_120997511del GRCh38
NC_000012.11:g.121435313_121435314del , CM000674.1:g.121435313_121435314del GRCh37
NC_000012.10:g.119919696_119919697del NCBI36
NG_011731.2:g.23765_23766del , LRG_522:g.23765_23766del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*93_*94del ENSP00000453965.2:n.*93_*94del
ENST00000257555.11:c.1346_1347del MANE Select ENSP00000257555.5:p.Ile449LysfsTer?
ENST00000257555.10:c.1346_1347del ENSP00000257555.4:p.Ile449LysfsTer?
ENST00000400024.6:c.1346_1347del ENSP00000476181.1:p.Ile449LysfsTer?
ENST00000402929.5:n.2212_2213del
ENST00000535955.5:n.62_63del
ENST00000538626.2:n.210_211del
ENST00000538646.5:c.*322_*323del ENSP00000443964.1:n.*322_*323del
ENST00000540108.1:c.*786_*787del ENSP00000445445.1:n.*786_*787del
ENST00000541395.5:c.1346_1347del ENSP00000443112.1:p.Ile449LysfsTer?
ENST00000541924.5:c.*360_*361del ENSP00000440361.1:n.*360_*361del
ENST00000543255.1:n.390_391del
ENST00000543427.5:c.809_810del ENSP00000439721.2:p.Ile270LysfsTer?
ENST00000544413.2:c.1346_1347del ENSP00000438804.1:p.Ile449LysfsTer?
ENST00000544574.5:c.*109_*110del ENSP00000438565.1:n.*109_*110del
ENST00000560968.5:c.1163_1164del
ENST00000615446.4:c.134_135del ENSP00000483994.1:p.Ile45LysfsTer?
ENST00000617366.4:c.587-124_587-123del ENSP00000481967.1:n.587-124_587-123del
NM_000545.5:c.1346_1347del , LRG_522t1:c.1346_1347del NP_000536.5:p.Ile449LysfsTer?
NM_000545.6:c.1346_1347del NP_000536.5:p.Ile449LysfsTer?
NM_001306179.1:c.1346_1347del NP_001293108.1:p.Ile449LysfsTer?
XM_005253931.2:c.1346_1347del XP_005253988.1:p.Ile449LysfsTer?
XM_024449168.1:c.1346_1347del XP_024304936.1:p.Ile449LysfsTer?
NM_000545.8:c.1346_1347del MANE Select NP_000536.6:p.Ile449LysfsTer?
NM_001306179.2:c.1346_1347del NP_001293108.2:p.Ile449LysfsTer?