Canonical Allele Identifier: CA952559577

Gene: HNF1A

Linked Data

• dbSNP Id: rs1876923774
• gnomAD v3: 12-120993394-T-TTAGATG
• gnomAD v4: 12-120993394-T-TTAGATG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120993395_120993396insAGATGT , CM000674.2:g.120993395_120993396insAGATGT	GRCh38
NC_000012.11:g.121431198_121431199insAGATGT , CM000674.1:g.121431198_121431199insAGATGT	GRCh37
NC_000012.10:g.119915581_119915582insAGATGT	NCBI36
NG_011731.2:g.19650_19651insAGATGT , LRG_522:g.19650_19651insAGATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.527-125_527-124insAGATGT	ENSP00000453965.2:n.527-125_527-124insAGATGT
ENST00000257555.11:c.527-125_527-124insAGATGT MANE Select	ENSP00000257555.5:n.527-125_527-124insAGATGT
ENST00000257555.10:c.527-125_527-124insAGATGT	ENSP00000257555.4:n.527-125_527-124insAGATGT
ENST00000400024.6:c.527-125_527-124insAGATGT	ENSP00000476181.1:n.527-125_527-124insAGATGT
ENST00000402929.5:n.662-125_662-124insAGATGT
ENST00000535955.5:n.43-4096_43-4095insAGATGT
ENST00000538626.2:n.191-4096_191-4095insAGATGT
ENST00000538646.5:c.527-769_527-768insAGATGT	ENSP00000443964.1:n.527-769_527-768insAGATGT
ENST00000540108.1:c.327-125_327-124insAGATGT	ENSP00000445445.1:n.327-125_327-124insAGATGT
ENST00000541395.5:c.527-125_527-124insAGATGT	ENSP00000443112.1:n.527-125_527-124insAGATGT
ENST00000541924.5:c.527-125_527-124insAGATGT	ENSP00000440361.1:n.527-125_527-124insAGATGT
ENST00000543427.5:c.527-125_527-124insAGATGT	ENSP00000439721.2:n.527-125_527-124insAGATGT
ENST00000544413.2:c.527-125_527-124insAGATGT	ENSP00000438804.1:n.527-125_527-124insAGATGT
ENST00000544574.5:c.73-3222_73-3221insAGATGT	ENSP00000438565.1:n.73-3222_73-3221insAGATGT
ENST00000560968.5:c.670-125_670-124insAGATGT
ENST00000615446.4:c.-257-2867_-257-2866insAGATGT	ENSP00000483994.1:n.-257-2867_-257-2866insAGATGT
ENST00000617366.4:c.527-125_527-124insAGATGT	ENSP00000481967.1:n.527-125_527-124insAGATGT
NM_000545.5:c.527-125_527-124insAGATGT , LRG_522t1:c.527-125_527-124insAGATGT	NP_000536.5:n.527-125_527-124insAGATGT
NM_000545.6:c.527-125_527-124insAGATGT	NP_000536.5:n.527-125_527-124insAGATGT
NM_001306179.1:c.527-125_527-124insAGATGT	NP_001293108.1:n.527-125_527-124insAGATGT
XM_005253931.2:c.527-125_527-124insAGATGT	XP_005253988.1:n.527-125_527-124insAGATGT
XM_024449168.1:c.527-125_527-124insAGATGT	XP_024304936.1:n.527-125_527-124insAGATGT
NM_000545.8:c.527-125_527-124insAGATGT MANE Select	NP_000536.6:n.527-125_527-124insAGATGT
NM_001306179.2:c.527-125_527-124insAGATGT	NP_001293108.2:n.527-125_527-124insAGATGT