Canonical Allele Identifier: CA2067678261
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993577_120993578delinsCA , CM000674.2:g.120993577_120993578delinsCA GRCh38
NC_000012.11:g.121431380_121431381delinsCA , CM000674.1:g.121431380_121431381delinsCA GRCh37
NC_000012.10:g.119915763_119915764delinsCA NCBI36
NG_011731.2:g.19832_19833delinsCA , LRG_522:g.19832_19833delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.584_585delinsCA ENSP00000453965.2:p.Pro195=
ENST00000257555.11:c.584_585delinsCA MANE Select ENSP00000257555.5:p.Pro195=
ENST00000257555.10:c.584_585delinsCA ENSP00000257555.4:p.Pro195=
ENST00000400024.6:c.584_585delinsCA ENSP00000476181.1:p.Pro195=
ENST00000402929.5:n.719_720delinsCA
ENST00000535955.5:n.43-3914_43-3913delinsCA
ENST00000538626.2:n.191-3914_191-3913delinsCA
ENST00000538646.5:c.527-587_527-586delinsCA ENSP00000443964.1:n.527-587_527-586delinsCA
ENST00000540108.1:c.*24_*25delinsCA ENSP00000445445.1:n.*24_*25delinsCA
ENST00000541395.5:c.584_585delinsCA ENSP00000443112.1:p.Pro195=
ENST00000541924.5:c.584_585delinsCA ENSP00000440361.1:p.Pro195=
ENST00000543427.5:c.584_585delinsCA ENSP00000439721.2:p.Pro195=
ENST00000544413.2:c.584_585delinsCA ENSP00000438804.1:p.Pro195=
ENST00000544574.5:c.73-3040_73-3039delinsCA ENSP00000438565.1:n.73-3040_73-3039delinsCA
ENST00000560968.5:c.727_728delinsCA
ENST00000615446.4:c.-257-2685_-257-2684delinsCA ENSP00000483994.1:n.-257-2685_-257-2684delinsCA
ENST00000617366.4:c.584_585delinsCA ENSP00000481967.1:p.Pro195=
NM_000545.5:c.584_585delinsCA , LRG_522t1:c.584_585delinsCA NP_000536.5:p.Pro195=
NM_000545.6:c.584_585delinsCA NP_000536.5:p.Pro195=
NM_001306179.1:c.584_585delinsCA NP_001293108.1:p.Pro195=
XM_005253931.2:c.584_585delinsCA XP_005253988.1:p.Pro195=
XM_024449168.1:c.584_585delinsCA XP_024304936.1:p.Pro195=
NM_000545.8:c.584_585delinsCA MANE Select NP_000536.6:p.Pro195=
NM_001306179.2:c.584_585delinsCA NP_001293108.2:p.Pro195=