Canonical Allele Identifier: CA645587999
Gene: HNF1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994250_120994251delinsAA , CM000674.2:g.120994250_120994251delinsAA GRCh38
NC_000012.11:g.121432053_121432054delinsAA , CM000674.1:g.121432053_121432054delinsAA GRCh37
NC_000012.10:g.119916436_119916437delinsAA NCBI36
NG_011731.2:g.20505_20506delinsAA , LRG_522:g.20505_20506delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+50_750+51delinsAA ENSP00000453965.2:n.750+50_750+51delinsAA
ENST00000257555.11:c.800_801delinsAA MANE Select ENSP00000257555.5:p.Trp267Ter
ENST00000257555.10:c.800_801delinsAA ENSP00000257555.4:p.Trp267Ter
ENST00000400024.6:c.800_801delinsAA ENSP00000476181.1:p.Trp267Ter
ENST00000402929.5:n.935_936delinsAA
ENST00000535955.5:n.43-3241_43-3240delinsAA
ENST00000538626.2:n.191-3241_191-3240delinsAA
ENST00000538646.5:c.613_614delinsAA ENSP00000443964.1:p.Gly205Asn
ENST00000540108.1:c.*240_*241delinsAA ENSP00000445445.1:n.*240_*241delinsAA
ENST00000541395.5:c.800_801delinsAA ENSP00000443112.1:p.Trp267Ter
ENST00000541924.5:c.713+544_713+545delinsAA ENSP00000440361.1:n.713+544_713+545delinsAA
ENST00000543427.5:c.633+624_633+625delinsAA ENSP00000439721.2:n.633+624_633+625delinsAA
ENST00000544413.2:c.800_801delinsAA ENSP00000438804.1:p.Trp267Ter
ENST00000544574.5:c.73-2367_73-2366delinsAA ENSP00000438565.1:n.73-2367_73-2366delinsAA
ENST00000560968.5:c.893+50_893+51delinsAA
ENST00000615446.4:c.-257-2012_-257-2011delinsAA ENSP00000483994.1:n.-257-2012_-257-2011delinsAA
ENST00000617366.4:c.586+671_586+672delinsAA ENSP00000481967.1:n.586+671_586+672delinsAA
NM_000545.5:c.800_801delinsAA , LRG_522t1:c.800_801delinsAA NP_000536.5:p.Trp267Ter
NM_000545.6:c.800_801delinsAA NP_000536.5:p.Trp267Ter
NM_001306179.1:c.800_801delinsAA NP_001293108.1:p.Trp267Ter
XM_005253931.2:c.800_801delinsAA XP_005253988.1:p.Trp267Ter
XM_024449168.1:c.800_801delinsAA XP_024304936.1:p.Trp267Ter
NM_000545.8:c.800_801delinsAA MANE Select NP_000536.6:p.Trp267Ter
NM_001306179.2:c.800_801delinsAA NP_001293108.2:p.Trp267Ter