Canonical Allele Identifier: CA2740097586

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 3039133
• ClinVar RCV Id: RCV003914469

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997528_120997532del , CM000674.2:g.120997528_120997532del	GRCh38
NC_000012.11:g.121435331_121435335del , CM000674.1:g.121435331_121435335del	GRCh37
NC_000012.10:g.119919714_119919718del	NCBI36
NG_011731.2:g.23783_23787del , LRG_522:g.23783_23787del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.*111_*115del	ENSP00000453965.2:n.*111_*115del
ENST00000257555.11:c.1364_1368del MANE Select	ENSP00000257555.5:p.Ser455AsnfsTer?
ENST00000257555.10:c.1364_1368del	ENSP00000257555.4:p.Ser455AsnfsTer?
ENST00000400024.6:c.1364_1368del	ENSP00000476181.1:p.Ser455AsnfsTer?
ENST00000402929.5:n.2230_2234del
ENST00000535955.5:n.80_84del
ENST00000538626.2:n.228_232del
ENST00000538646.5:c.*340_*344del	ENSP00000443964.1:n.*340_*344del
ENST00000540108.1:c.*804_*808del	ENSP00000445445.1:n.*804_*808del
ENST00000541395.5:c.1364_1368del	ENSP00000443112.1:p.Ser455AsnfsTer?
ENST00000541924.5:c.*378_*382del	ENSP00000440361.1:n.*378_*382del
ENST00000543255.1:n.408_412del
ENST00000543427.5:c.827_831del	ENSP00000439721.2:p.Ser276AsnfsTer?
ENST00000544413.2:c.1364_1368del	ENSP00000438804.1:p.Ser455AsnfsTer?
ENST00000544574.5:c.*127_*131del	ENSP00000438565.1:n.*127_*131del
ENST00000560968.5:c.1181_1185del
ENST00000615446.4:c.152_156del	ENSP00000483994.1:p.Ser51AsnfsTer?
ENST00000617366.4:c.587-106_587-102del	ENSP00000481967.1:n.587-106_587-102del
NM_000545.5:c.1364_1368del , LRG_522t1:c.1364_1368del	NP_000536.5:p.Ser455AsnfsTer?
NM_000545.6:c.1364_1368del	NP_000536.5:p.Ser455AsnfsTer?
NM_001306179.1:c.1364_1368del	NP_001293108.1:p.Ser455AsnfsTer?
XM_005253931.2:c.1364_1368del	XP_005253988.1:p.Ser455AsnfsTer?
XM_024449168.1:c.1364_1368del	XP_024304936.1:p.Ser455AsnfsTer?
NM_000545.8:c.1364_1368del MANE Select	NP_000536.6:p.Ser455AsnfsTer?
NM_001306179.2:c.1364_1368del	NP_001293108.2:p.Ser455AsnfsTer?