Canonical Allele Identifier: CA2499221471

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 1173963
• ClinVar RCV Id: RCV001527411
• dbSNP Id: rs2135847592

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997533_120997548dup , CM000674.2:g.120997533_120997548dup	GRCh38
NC_000012.11:g.121435336_121435351dup , CM000674.1:g.121435336_121435351dup	GRCh37
NC_000012.10:g.119919719_119919734dup	NCBI36
NG_011731.2:g.23788_23803dup , LRG_522:g.23788_23803dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.*116_*131dup	ENSP00000453965.2:n.*116_*131dup
ENST00000257555.11:c.1369_1384dup MANE Select	ENSP00000257555.5:p.Val462AspfsTer?
ENST00000257555.10:c.1369_1384dup	ENSP00000257555.4:p.Val462AspfsTer?
ENST00000400024.6:c.1369_1384dup	ENSP00000476181.1:p.Val462AspfsTer?
ENST00000402929.5:n.2235_2250dup
ENST00000535955.5:n.85_100dup
ENST00000538626.2:n.233_248dup
ENST00000538646.5:c.*345_*360dup	ENSP00000443964.1:n.*345_*360dup
ENST00000540108.1:c.*809_*824dup	ENSP00000445445.1:n.*809_*824dup
ENST00000541395.5:c.1369_1384dup	ENSP00000443112.1:p.Val462AspfsTer?
ENST00000541924.5:c.*383_*398dup	ENSP00000440361.1:n.*383_*398dup
ENST00000543255.1:n.413_428dup
ENST00000543427.5:c.832_847dup	ENSP00000439721.2:p.Val283AspfsTer?
ENST00000544413.2:c.1369_1384dup	ENSP00000438804.1:p.Val462AspfsTer?
ENST00000544574.5:c.*132_*147dup	ENSP00000438565.1:n.*132_*147dup
ENST00000560968.5:c.1186_1201dup
ENST00000615446.4:c.157_172dup	ENSP00000483994.1:p.Val58AspfsTer?
ENST00000617366.4:c.587-101_587-86dup	ENSP00000481967.1:n.587-101_587-86dup
NM_000545.5:c.1369_1384dup , LRG_522t1:c.1369_1384dup	NP_000536.5:p.Val462AspfsTer?
NM_000545.6:c.1369_1384dup	NP_000536.5:p.Val462AspfsTer?
NM_001306179.1:c.1369_1384dup	NP_001293108.1:p.Val462AspfsTer?
XM_005253931.2:c.1369_1384dup	XP_005253988.1:p.Val462AspfsTer?
XM_024449168.1:c.1369_1384dup	XP_024304936.1:p.Val462AspfsTer?
NM_000545.8:c.1369_1384dup MANE Select	NP_000536.6:p.Val462AspfsTer?
NM_001306179.2:c.1369_1384dup	NP_001293108.2:p.Val462AspfsTer?