Canonical Allele Identifier: CA2067686219
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997640_120997642delinsCAT , CM000674.2:g.120997640_120997642delinsCAT GRCh38
NC_000012.11:g.121435443_121435445delinsCAT , CM000674.1:g.121435443_121435445delinsCAT GRCh37
NC_000012.10:g.119919826_119919828delinsCAT NCBI36
NG_011731.2:g.23895_23897delinsCAT , LRG_522:g.23895_23897delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*223_*225delinsCAT ENSP00000453965.2:n.*223_*225delinsCAT
ENST00000257555.11:c.1476_1478delinsCAT MANE Select ENSP00000257555.5:p.Thr492=
ENST00000257555.10:c.1476_1478delinsCAT ENSP00000257555.4:p.Thr492=
ENST00000400024.6:c.1476_1478delinsCAT ENSP00000476181.1:p.Thr492=
ENST00000402929.5:n.2342_2344delinsCAT
ENST00000535955.5:n.192_194delinsCAT
ENST00000538626.2:n.340_342delinsCAT
ENST00000538646.5:c.*452_*454delinsCAT ENSP00000443964.1:n.*452_*454delinsCAT
ENST00000540108.1:c.*916_*918delinsCAT ENSP00000445445.1:n.*916_*918delinsCAT
ENST00000541395.5:c.1476_1478delinsCAT ENSP00000443112.1:p.Thr492=
ENST00000541924.5:c.*490_*492delinsCAT ENSP00000440361.1:n.*490_*492delinsCAT
ENST00000543255.1:n.520_522delinsCAT
ENST00000543427.5:c.939_941delinsCAT ENSP00000439721.2:p.Thr313=
ENST00000544413.2:c.1476_1478delinsCAT ENSP00000438804.1:p.Thr492=
ENST00000544574.5:c.*239_*241delinsCAT ENSP00000438565.1:n.*239_*241delinsCAT
ENST00000560968.5:c.1293_1295delinsCAT
ENST00000615446.4:c.264_266delinsCAT ENSP00000483994.1:p.Thr88=
ENST00000617366.4:c.593_595delinsCAT ENSP00000481967.1:p.Pro198=
NM_000545.5:c.1476_1478delinsCAT , LRG_522t1:c.1476_1478delinsCAT NP_000536.5:p.Thr492=
NM_000545.6:c.1476_1478delinsCAT NP_000536.5:p.Thr492=
NM_001306179.1:c.1476_1478delinsCAT NP_001293108.1:p.Thr492=
XM_005253931.2:c.1476_1478delinsCAT XP_005253988.1:p.Thr492=
XM_024449168.1:c.1476_1478delinsCAT XP_024304936.1:p.Thr492=
NM_000545.8:c.1476_1478delinsCAT MANE Select NP_000536.6:p.Thr492=
NM_001306179.2:c.1476_1478delinsCAT NP_001293108.2:p.Thr492=