Canonical Allele Identifier: CA2067679589
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994314_120994315delinsGC , CM000674.2:g.120994314_120994315delinsGC GRCh38
NC_000012.11:g.121432117_121432118delinsGC , CM000674.1:g.121432117_121432118delinsGC GRCh37
NC_000012.10:g.119916500_119916501delinsGC NCBI36
NG_011731.2:g.20569_20570delinsGC , LRG_522:g.20569_20570delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+114_750+115delinsGC ENSP00000453965.2:n.750+114_750+115delinsGC
ENST00000257555.11:c.864_865delinsGC MANE Select ENSP00000257555.5:p.Gly288=
ENST00000257555.10:c.864_865delinsGC ENSP00000257555.4:p.Gly288=
ENST00000400024.6:c.864_865delinsGC ENSP00000476181.1:p.Gly288=
ENST00000402929.5:n.999_1000delinsGC
ENST00000535955.5:n.43-3177_43-3176delinsGC
ENST00000538626.2:n.191-3177_191-3176delinsGC
ENST00000538646.5:c.677_678delinsGC ENSP00000443964.1:p.Gly226=
ENST00000540108.1:c.*304_*305delinsGC ENSP00000445445.1:n.*304_*305delinsGC
ENST00000541395.5:c.864_865delinsGC ENSP00000443112.1:p.Gly288=
ENST00000541924.5:c.713+608_713+609delinsGC ENSP00000440361.1:n.713+608_713+609delinsGC
ENST00000543427.5:c.633+688_633+689delinsGC ENSP00000439721.2:n.633+688_633+689delinsGC
ENST00000544413.2:c.864_865delinsGC ENSP00000438804.1:p.Gly288=
ENST00000544574.5:c.73-2303_73-2302delinsGC ENSP00000438565.1:n.73-2303_73-2302delinsGC
ENST00000560968.5:c.893+114_893+115delinsGC
ENST00000615446.4:c.-257-1948_-257-1947delinsGC ENSP00000483994.1:n.-257-1948_-257-1947delinsGC
ENST00000617366.4:c.586+735_586+736delinsGC ENSP00000481967.1:n.586+735_586+736delinsGC
NM_000545.5:c.864_865delinsGC , LRG_522t1:c.864_865delinsGC NP_000536.5:p.Gly288=
NM_000545.6:c.864_865delinsGC NP_000536.5:p.Gly288=
NM_001306179.1:c.864_865delinsGC NP_001293108.1:p.Gly288=
XM_005253931.2:c.864_865delinsGC XP_005253988.1:p.Gly288=
XM_024449168.1:c.864_865delinsGC XP_024304936.1:p.Gly288=
NM_000545.8:c.864_865delinsGC MANE Select NP_000536.6:p.Gly288=
NM_001306179.2:c.864_865delinsGC NP_001293108.2:p.Gly288=