Canonical Allele Identifier: CA645587997
Gene: HNF1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994230_120994231delinsAA , CM000674.2:g.120994230_120994231delinsAA GRCh38
NC_000012.11:g.121432033_121432034delinsAA , CM000674.1:g.121432033_121432034delinsAA GRCh37
NC_000012.10:g.119916416_119916417delinsAA NCBI36
NG_011731.2:g.20485_20486delinsAA , LRG_522:g.20485_20486delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+30_750+31delinsAA ENSP00000453965.2:n.750+30_750+31delinsAA
ENST00000257555.11:c.780_781delinsAA MANE Select ENSP00000257555.5:p.Glu261Lys
ENST00000257555.10:c.780_781delinsAA ENSP00000257555.4:p.Glu261Lys
ENST00000400024.6:c.780_781delinsAA ENSP00000476181.1:p.Glu261Lys
ENST00000402929.5:n.915_916delinsAA
ENST00000535955.5:n.43-3261_43-3260delinsAA
ENST00000538626.2:n.191-3261_191-3260delinsAA
ENST00000538646.5:c.593_594delinsAA ENSP00000443964.1:p.Arg198Gln
ENST00000540108.1:c.*220_*221delinsAA ENSP00000445445.1:n.*220_*221delinsAA
ENST00000541395.5:c.780_781delinsAA ENSP00000443112.1:p.Glu261Lys
ENST00000541924.5:c.713+524_713+525delinsAA ENSP00000440361.1:n.713+524_713+525delinsAA
ENST00000543427.5:c.633+604_633+605delinsAA ENSP00000439721.2:n.633+604_633+605delinsAA
ENST00000544413.2:c.780_781delinsAA ENSP00000438804.1:p.Glu261Lys
ENST00000544574.5:c.73-2387_73-2386delinsAA ENSP00000438565.1:n.73-2387_73-2386delinsAA
ENST00000560968.5:c.893+30_893+31delinsAA
ENST00000615446.4:c.-257-2032_-257-2031delinsAA ENSP00000483994.1:n.-257-2032_-257-2031delinsAA
ENST00000617366.4:c.586+651_586+652delinsAA ENSP00000481967.1:n.586+651_586+652delinsAA
NM_000545.5:c.780_781delinsAA , LRG_522t1:c.780_781delinsAA NP_000536.5:p.Glu261Lys
NM_000545.6:c.780_781delinsAA NP_000536.5:p.Glu261Lys
NM_001306179.1:c.780_781delinsAA NP_001293108.1:p.Glu261Lys
XM_005253931.2:c.780_781delinsAA XP_005253988.1:p.Glu261Lys
XM_024449168.1:c.780_781delinsAA XP_024304936.1:p.Glu261Lys
NM_000545.8:c.780_781delinsAA MANE Select NP_000536.6:p.Glu261Lys
NM_001306179.2:c.780_781delinsAA NP_001293108.2:p.Glu261Lys