Canonical Allele Identifier: CA2067679587
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994313_120994314delinsGG , CM000674.2:g.120994313_120994314delinsGG GRCh38
NC_000012.11:g.121432116_121432117delinsGG , CM000674.1:g.121432116_121432117delinsGG GRCh37
NC_000012.10:g.119916499_119916500delinsGG NCBI36
NG_011731.2:g.20568_20569delinsGG , LRG_522:g.20568_20569delinsGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+113_750+114delinsGG ENSP00000453965.2:n.750+113_750+114delinsGG
ENST00000257555.11:c.863_864delinsGG MANE Select ENSP00000257555.5:p.Gly288=
ENST00000257555.10:c.863_864delinsGG ENSP00000257555.4:p.Gly288=
ENST00000400024.6:c.863_864delinsGG ENSP00000476181.1:p.Gly288=
ENST00000402929.5:n.998_999delinsGG
ENST00000535955.5:n.43-3178_43-3177delinsGG
ENST00000538626.2:n.191-3178_191-3177delinsGG
ENST00000538646.5:c.676_677delinsGG ENSP00000443964.1:p.Gly226=
ENST00000540108.1:c.*303_*304delinsGG ENSP00000445445.1:n.*303_*304delinsGG
ENST00000541395.5:c.863_864delinsGG ENSP00000443112.1:p.Gly288=
ENST00000541924.5:c.713+607_713+608delinsGG ENSP00000440361.1:n.713+607_713+608delinsGG
ENST00000543427.5:c.633+687_633+688delinsGG ENSP00000439721.2:n.633+687_633+688delinsGG
ENST00000544413.2:c.863_864delinsGG ENSP00000438804.1:p.Gly288=
ENST00000544574.5:c.73-2304_73-2303delinsGG ENSP00000438565.1:n.73-2304_73-2303delinsGG
ENST00000560968.5:c.893+113_893+114delinsGG
ENST00000615446.4:c.-257-1949_-257-1948delinsGG ENSP00000483994.1:n.-257-1949_-257-1948delinsGG
ENST00000617366.4:c.586+734_586+735delinsGG ENSP00000481967.1:n.586+734_586+735delinsGG
NM_000545.5:c.863_864delinsGG , LRG_522t1:c.863_864delinsGG NP_000536.5:p.Gly288=
NM_000545.6:c.863_864delinsGG NP_000536.5:p.Gly288=
NM_001306179.1:c.863_864delinsGG NP_001293108.1:p.Gly288=
XM_005253931.2:c.863_864delinsGG XP_005253988.1:p.Gly288=
XM_024449168.1:c.863_864delinsGG XP_024304936.1:p.Gly288=
NM_000545.8:c.863_864delinsGG MANE Select NP_000536.6:p.Gly288=
NM_001306179.2:c.863_864delinsGG NP_001293108.2:p.Gly288=