Canonical Allele Identifier: CA2067678401
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993654_120993657delinsCAGA , CM000674.2:g.120993654_120993657delinsCAGA GRCh38
NC_000012.11:g.121431457_121431460delinsCAGA , CM000674.1:g.121431457_121431460delinsCAGA GRCh37
NC_000012.10:g.119915840_119915843delinsCAGA NCBI36
NG_011731.2:g.19909_19912delinsCAGA , LRG_522:g.19909_19912delinsCAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.661_664delinsCAGA ENSP00000453965.2:p.Gln221=
ENST00000257555.11:c.661_664delinsCAGA MANE Select ENSP00000257555.5:p.Gln221=
ENST00000257555.10:c.661_664delinsCAGA ENSP00000257555.4:p.Gln221=
ENST00000400024.6:c.661_664delinsCAGA ENSP00000476181.1:p.Gln221=
ENST00000402929.5:n.796_799delinsCAGA
ENST00000535955.5:n.43-3837_43-3834delinsCAGA
ENST00000538626.2:n.191-3837_191-3834delinsCAGA
ENST00000538646.5:c.527-510_527-507delinsCAGA ENSP00000443964.1:n.527-510_527-507delinsCAGA
ENST00000540108.1:c.*101_*104delinsCAGA ENSP00000445445.1:n.*101_*104delinsCAGA
ENST00000541395.5:c.661_664delinsCAGA ENSP00000443112.1:p.Gln221=
ENST00000541924.5:c.661_664delinsCAGA ENSP00000440361.1:p.Gln221=
ENST00000543427.5:c.633+28_633+31delinsCAGA ENSP00000439721.2:n.633+28_633+31delinsCAGA
ENST00000544413.2:c.661_664delinsCAGA ENSP00000438804.1:p.Gln221=
ENST00000544574.5:c.73-2963_73-2960delinsCAGA ENSP00000438565.1:n.73-2963_73-2960delinsCAGA
ENST00000560968.5:c.804_807delinsCAGA
ENST00000615446.4:c.-257-2608_-257-2605delinsCAGA ENSP00000483994.1:n.-257-2608_-257-2605delinsCAGA
ENST00000617366.4:c.586+75_586+78delinsCAGA ENSP00000481967.1:n.586+75_586+78delinsCAGA
NM_000545.5:c.661_664delinsCAGA , LRG_522t1:c.661_664delinsCAGA NP_000536.5:p.Gln221=
NM_000545.6:c.661_664delinsCAGA NP_000536.5:p.Gln221=
NM_001306179.1:c.661_664delinsCAGA NP_001293108.1:p.Gln221=
XM_005253931.2:c.661_664delinsCAGA XP_005253988.1:p.Gln221=
XM_024449168.1:c.661_664delinsCAGA XP_024304936.1:p.Gln221=
NM_000545.8:c.661_664delinsCAGA MANE Select NP_000536.6:p.Gln221=
NM_001306179.2:c.661_664delinsCAGA NP_001293108.2:p.Gln221=