Canonical Allele Identifier: CA482430670
Gene: HNF1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994323_120994324insC , CM000674.2:g.120994323_120994324insC GRCh38
NC_000012.11:g.121432126_121432127insC , CM000674.1:g.121432126_121432127insC GRCh37
NC_000012.10:g.119916509_119916510insC NCBI36
NG_011731.2:g.20578_20579insC , LRG_522:g.20578_20579insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+123_750+124insC ENSP00000453965.2:n.750+123_750+124insC
ENST00000257555.11:c.873_874insC MANE Select ENSP00000257555.5:p.Gly292ArgfsTer25
ENST00000257555.10:c.873_874insC ENSP00000257555.4:p.Gly292ArgfsTer25
ENST00000400024.6:c.873_874insC ENSP00000476181.1:p.Gly292ArgfsTer25
ENST00000402929.5:n.1008_1009insC
ENST00000535955.5:n.43-3168_43-3167insC
ENST00000538626.2:n.191-3168_191-3167insC
ENST00000538646.5:c.686_687insC ENSP00000443964.1:p.Gln229HisfsTer?
ENST00000540108.1:c.*313_*314insC ENSP00000445445.1:n.*313_*314insC
ENST00000541395.5:c.873_874insC ENSP00000443112.1:p.Gly292ArgfsTer25
ENST00000541924.5:c.713+617_713+618insC ENSP00000440361.1:n.713+617_713+618insC
ENST00000543427.5:c.633+697_633+698insC ENSP00000439721.2:n.633+697_633+698insC
ENST00000544413.2:c.873_874insC ENSP00000438804.1:p.Gly292ArgfsTer25
ENST00000544574.5:c.73-2294_73-2293insC ENSP00000438565.1:n.73-2294_73-2293insC
ENST00000560968.5:c.893+123_893+124insC
ENST00000615446.4:c.-257-1939_-257-1938insC ENSP00000483994.1:n.-257-1939_-257-1938insC
ENST00000617366.4:c.586+744_586+745insC ENSP00000481967.1:n.586+744_586+745insC
NM_000545.5:c.873_874insC , LRG_522t1:c.873_874insC NP_000536.5:p.Gly292ArgfsTer25
NM_000545.6:c.873_874insC NP_000536.5:p.Gly292ArgfsTer25
NM_001306179.1:c.873_874insC NP_001293108.1:p.Gly292ArgfsTer25
XM_005253931.2:c.873_874insC XP_005253988.1:p.Gly292ArgfsTer25
XM_024449168.1:c.873_874insC XP_024304936.1:p.Gly292ArgfsTer25
NM_000545.8:c.873_874insC MANE Select NP_000536.6:p.Gly292ArgfsTer25
NM_001306179.2:c.873_874insC NP_001293108.2:p.Gly292ArgfsTer25