Canonical Allele Identifier: CA645588007
Gene: HNF1A HGNC NCBI

Linked Data

COSMIC: COSM46441

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994381_120994382delinsACCTA , CM000674.2:g.120994381_120994382delinsACCTA GRCh38
NC_000012.11:g.121432184_121432185delinsACCTA , CM000674.1:g.121432184_121432185delinsACCTA GRCh37
NC_000012.10:g.119916567_119916568delinsACCTA NCBI36
NG_011731.2:g.20636_20637delinsACCTA , LRG_522:g.20636_20637delinsACCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+181_750+182delinsACCTA ENSP00000453965.2:n.750+181_750+182delinsACCTA
ENST00000257555.11:c.931_932delinsACCTA MANE Select ENSP00000257555.5:p.Ala311delinsThrTyr
ENST00000257555.10:c.931_932delinsACCTA ENSP00000257555.4:p.Ala311delinsThrTyr
ENST00000400024.6:c.931_932delinsACCTA ENSP00000476181.1:p.Ala311delinsThrTyr
ENST00000402929.5:n.1066_1067delinsACCTA
ENST00000535955.5:n.43-3110_43-3109delinsACCTA
ENST00000538626.2:n.191-3110_191-3109delinsACCTA
ENST00000538646.5:c.744_745delinsACCTA ENSP00000443964.1:p.Pro249_Ser250insThr
ENST00000540108.1:c.*371_*372delinsACCTA ENSP00000445445.1:n.*371_*372delinsACCTA
ENST00000541395.5:c.931_932delinsACCTA ENSP00000443112.1:p.Ala311delinsThrTyr
ENST00000541924.5:c.713+675_713+676delinsACCTA ENSP00000440361.1:n.713+675_713+676delinsACCTA
ENST00000543427.5:c.633+755_633+756delinsACCTA ENSP00000439721.2:n.633+755_633+756delinsACCTA
ENST00000544413.2:c.931_932delinsACCTA ENSP00000438804.1:p.Ala311delinsThrTyr
ENST00000544574.5:c.73-2236_73-2235delinsACCTA ENSP00000438565.1:n.73-2236_73-2235delinsACCTA
ENST00000560968.5:c.893+181_893+182delinsACCTA
ENST00000615446.4:c.-257-1881_-257-1880delinsACCTA ENSP00000483994.1:n.-257-1881_-257-1880delinsACCTA
ENST00000617366.4:c.586+802_586+803delinsACCTA ENSP00000481967.1:n.586+802_586+803delinsACCTA
NM_000545.5:c.931_932delinsACCTA , LRG_522t1:c.931_932delinsACCTA NP_000536.5:p.Ala311delinsThrTyr
NM_000545.6:c.931_932delinsACCTA NP_000536.5:p.Ala311delinsThrTyr
NM_001306179.1:c.931_932delinsACCTA NP_001293108.1:p.Ala311delinsThrTyr
XM_005253931.2:c.931_932delinsACCTA XP_005253988.1:p.Ala311delinsThrTyr
XM_024449168.1:c.931_932delinsACCTA XP_024304936.1:p.Ala311delinsThrTyr
NM_000545.8:c.931_932delinsACCTA MANE Select NP_000536.6:p.Ala311delinsThrTyr
NM_001306179.2:c.931_932delinsACCTA NP_001293108.2:p.Ala311delinsThrTyr