Canonical Allele Identifier: CA2695217559
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997486_120997489dup , CM000674.2:g.120997486_120997489dup GRCh38
NC_000012.11:g.121435289_121435292dup , CM000674.1:g.121435289_121435292dup GRCh37
NC_000012.10:g.119919672_119919675dup NCBI36
NG_011731.2:g.23741_23744dup , LRG_522:g.23741_23744dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*69_*72dup ENSP00000453965.2:n.*69_*72dup
ENST00000257555.11:c.1322_1325dup MANE Select ENSP00000257555.5:p.Gln442HisfsTer?
ENST00000257555.10:c.1322_1325dup ENSP00000257555.4:p.Gln442HisfsTer?
ENST00000400024.6:c.1322_1325dup ENSP00000476181.1:p.Gln442HisfsTer?
ENST00000402929.5:n.2188_2191dup
ENST00000535955.5:n.43-5_43-2dup
ENST00000538626.2:n.191-5_191-2dup
ENST00000538646.5:c.*298_*301dup ENSP00000443964.1:n.*298_*301dup
ENST00000540108.1:c.*762_*765dup ENSP00000445445.1:n.*762_*765dup
ENST00000541395.5:c.1322_1325dup ENSP00000443112.1:p.Gln442HisfsTer?
ENST00000541924.5:c.*336_*339dup ENSP00000440361.1:n.*336_*339dup
ENST00000543255.1:n.366_369dup
ENST00000543427.5:c.785_788dup ENSP00000439721.2:p.Gln263HisfsTer?
ENST00000544413.2:c.1322_1325dup ENSP00000438804.1:p.Gln442HisfsTer?
ENST00000544574.5:c.*85_*88dup ENSP00000438565.1:n.*85_*88dup
ENST00000560968.5:c.1139_1142dup
ENST00000615446.4:c.110_113dup ENSP00000483994.1:p.Gln38HisfsTer?
ENST00000617366.4:c.587-148_587-145dup ENSP00000481967.1:n.587-148_587-145dup
NM_000545.5:c.1322_1325dup , LRG_522t1:c.1322_1325dup NP_000536.5:p.Gln442HisfsTer?
NM_000545.6:c.1322_1325dup NP_000536.5:p.Gln442HisfsTer?
NM_001306179.1:c.1322_1325dup NP_001293108.1:p.Gln442HisfsTer?
XM_005253931.2:c.1322_1325dup XP_005253988.1:p.Gln442HisfsTer?
XM_024449168.1:c.1322_1325dup XP_024304936.1:p.Gln442HisfsTer?
NM_000545.8:c.1322_1325dup MANE Select NP_000536.6:p.Gln442HisfsTer?
NM_001306179.2:c.1322_1325dup NP_001293108.2:p.Gln442HisfsTer?