Canonical Allele Identifier: CA156445

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 133355
• ClinVar RCV Id: RCV000119856 ; RCV000836330 ; RCV001421004
• dbSNP Id: rs58371019
• ExAC: 12:121434630 C / CTCATTCAT
• gnomAD v2: 12-121434630-C-CTCATTCAT
• gnomAD v3: 12-120996827-C-CTCATTCAT
• gnomAD v4: 12-120996827-C-CTCATTCAT
• COSMIC: COSN518716 ; COSM1645167
• MyVariant Identifiers: chr12:g.121434646_121434647insTCATTCAT (hg19) ; chr12:g.121434634_121434635insTCATTCAT (hg19) ; chr12:g.121434630_121434631insTCATTCAT (hg19) ; chr12:g.120996843_120996844insTCATTCAT (hg38) ; chr12:g.120996831_120996832insTCATTCAT (hg38) ; chr12:g.120996827_120996828insTCATTCAT (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996836_120996843dup , CM000674.2:g.120996836_120996843dup	GRCh38
NC_000012.11:g.121434639_121434646dup , CM000674.1:g.121434639_121434646dup	GRCh37
NC_000012.10:g.119919022_119919029dup	NCBI36
NG_011731.2:g.23091_23098dup , LRG_522:g.23091_23098dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.*56+94_*56+101dup	ENSP00000453965.2:n.*56+94_*56+101dup
ENST00000257555.11:c.1309+94_1309+101dup MANE Select	ENSP00000257555.5:n.1309+94_1309+101dup
ENST00000257555.10:c.1309+94_1309+101dup	ENSP00000257555.4:n.1309+94_1309+101dup
ENST00000400024.6:c.1309+94_1309+101dup	ENSP00000476181.1:n.1309+94_1309+101dup
ENST00000402929.5:n.1538_1545dup
ENST00000535955.5:n.43-655_43-648dup
ENST00000538626.2:n.191-655_191-648dup
ENST00000538646.5:c.*285+94_*285+101dup	ENSP00000443964.1:n.*285+94_*285+101dup
ENST00000540108.1:c.*749+94_*749+101dup	ENSP00000445445.1:n.*749+94_*749+101dup
ENST00000541395.5:c.1309+94_1309+101dup	ENSP00000443112.1:n.1309+94_1309+101dup
ENST00000541924.5:c.*323+94_*323+101dup	ENSP00000440361.1:n.*323+94_*323+101dup
ENST00000543255.1:n.353+94_353+101dup
ENST00000543427.5:c.772+94_772+101dup	ENSP00000439721.2:n.772+94_772+101dup
ENST00000544413.2:c.1309+94_1309+101dup	ENSP00000438804.1:n.1309+94_1309+101dup
ENST00000544574.5:c.*72+94_*72+101dup	ENSP00000438565.1:n.*72+94_*72+101dup
ENST00000560968.5:c.1126+94_1126+101dup
ENST00000615446.4:c.97+94_97+101dup	ENSP00000483994.1:n.97+94_97+101dup
ENST00000617366.4:c.587-798_587-791dup	ENSP00000481967.1:n.587-798_587-791dup
NM_000545.5:c.1309+94_1309+101dup , LRG_522t1:c.1309+94_1309+101dup	NP_000536.5:n.1309+94_1309+101dup
NM_000545.6:c.1309+94_1309+101dup	NP_000536.5:n.1309+94_1309+101dup
NM_001306179.1:c.1309+94_1309+101dup	NP_001293108.1:n.1309+94_1309+101dup
XM_005253931.2:c.1309+94_1309+101dup	XP_005253988.1:n.1309+94_1309+101dup
XM_024449168.1:c.1309+94_1309+101dup	XP_024304936.1:n.1309+94_1309+101dup
NM_000545.8:c.1309+94_1309+101dup MANE Select	NP_000536.6:n.1309+94_1309+101dup
NM_001306179.2:c.1309+94_1309+101dup	NP_001293108.2:n.1309+94_1309+101dup