Canonical Allele Identifier: CA2067683081

Gene: HNF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996326_120996327delinsCT , CM000674.2:g.120996326_120996327delinsCT	GRCh38
NC_000012.11:g.121434129_121434130delinsCT , CM000674.1:g.121434129_121434130delinsCT	GRCh37
NC_000012.10:g.119918512_119918513delinsCT	NCBI36
NG_011731.2:g.22581_22582delinsCT , LRG_522:g.22581_22582delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.751-57_751-56delinsCT	ENSP00000453965.2:n.751-57_751-56delinsCT
ENST00000257555.11:c.1020_1021delinsCT MANE Select	ENSP00000257555.5:p.Pro340=
ENST00000257555.10:c.1020_1021delinsCT	ENSP00000257555.4:p.Pro340=
ENST00000400024.6:c.1020_1021delinsCT	ENSP00000476181.1:p.Pro340=
ENST00000402929.5:n.1155_1156delinsCT
ENST00000535955.5:n.43-1165_43-1164delinsCT
ENST00000538626.2:n.191-1165_191-1164delinsCT
ENST00000538646.5:c.833_834delinsCT	ENSP00000443964.1:p.Pro278=
ENST00000540108.1:c.*460_*461delinsCT	ENSP00000445445.1:n.*460_*461delinsCT
ENST00000541395.5:c.1020_1021delinsCT	ENSP00000443112.1:p.Pro340=
ENST00000541924.5:c.*34_*35delinsCT	ENSP00000440361.1:n.*34_*35delinsCT
ENST00000543427.5:c.634-278_634-277delinsCT	ENSP00000439721.2:n.634-278_634-277delinsCT
ENST00000544413.2:c.1020_1021delinsCT	ENSP00000438804.1:p.Pro340=
ENST00000544574.5:c.73-291_73-290delinsCT	ENSP00000438565.1:n.73-291_73-290delinsCT
ENST00000560968.5:c.894-57_894-56delinsCT
ENST00000615446.4:c.-193_-192delinsCT	ENSP00000483994.1:n.-193_-192delinsCT
ENST00000617366.4:c.587-1308_587-1307delinsCT	ENSP00000481967.1:n.587-1308_587-1307delinsCT
NM_000545.5:c.1020_1021delinsCT , LRG_522t1:c.1020_1021delinsCT	NP_000536.5:p.Pro340=
NM_000545.6:c.1020_1021delinsCT	NP_000536.5:p.Pro340=
NM_001306179.1:c.1020_1021delinsCT	NP_001293108.1:p.Pro340=
XM_005253931.2:c.1020_1021delinsCT	XP_005253988.1:p.Pro340=
XM_024449168.1:c.1020_1021delinsCT	XP_024304936.1:p.Pro340=
NM_000545.8:c.1020_1021delinsCT MANE Select	NP_000536.6:p.Pro340=
NM_001306179.2:c.1020_1021delinsCT	NP_001293108.2:p.Pro340=