Canonical Allele Identifier: CA2067679548
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994290_120994291delinsGC , CM000674.2:g.120994290_120994291delinsGC GRCh38
NC_000012.11:g.121432093_121432094delinsGC , CM000674.1:g.121432093_121432094delinsGC GRCh37
NC_000012.10:g.119916476_119916477delinsGC NCBI36
NG_011731.2:g.20545_20546delinsGC , LRG_522:g.20545_20546delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+90_750+91delinsGC ENSP00000453965.2:n.750+90_750+91delinsGC
ENST00000257555.11:c.840_841delinsGC MANE Select ENSP00000257555.5:p.Lys280=
ENST00000257555.10:c.840_841delinsGC ENSP00000257555.4:p.Lys280=
ENST00000400024.6:c.840_841delinsGC ENSP00000476181.1:p.Lys280=
ENST00000402929.5:n.975_976delinsGC
ENST00000535955.5:n.43-3201_43-3200delinsGC
ENST00000538626.2:n.191-3201_191-3200delinsGC
ENST00000538646.5:c.653_654delinsGC ENSP00000443964.1:p.Ser218=
ENST00000540108.1:c.*280_*281delinsGC ENSP00000445445.1:n.*280_*281delinsGC
ENST00000541395.5:c.840_841delinsGC ENSP00000443112.1:p.Lys280=
ENST00000541924.5:c.713+584_713+585delinsGC ENSP00000440361.1:n.713+584_713+585delinsGC
ENST00000543427.5:c.633+664_633+665delinsGC ENSP00000439721.2:n.633+664_633+665delinsGC
ENST00000544413.2:c.840_841delinsGC ENSP00000438804.1:p.Lys280=
ENST00000544574.5:c.73-2327_73-2326delinsGC ENSP00000438565.1:n.73-2327_73-2326delinsGC
ENST00000560968.5:c.893+90_893+91delinsGC
ENST00000615446.4:c.-257-1972_-257-1971delinsGC ENSP00000483994.1:n.-257-1972_-257-1971delinsGC
ENST00000617366.4:c.586+711_586+712delinsGC ENSP00000481967.1:n.586+711_586+712delinsGC
NM_000545.5:c.840_841delinsGC , LRG_522t1:c.840_841delinsGC NP_000536.5:p.Lys280=
NM_000545.6:c.840_841delinsGC NP_000536.5:p.Lys280=
NM_001306179.1:c.840_841delinsGC NP_001293108.1:p.Lys280=
XM_005253931.2:c.840_841delinsGC XP_005253988.1:p.Lys280=
XM_024449168.1:c.840_841delinsGC XP_024304936.1:p.Lys280=
NM_000545.8:c.840_841delinsGC MANE Select NP_000536.6:p.Lys280=
NM_001306179.2:c.840_841delinsGC NP_001293108.2:p.Lys280=