Canonical Allele Identifier: CA482164157

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 435428
• ClinVar RCV Id: RCV000500461 ; RCV002222036 ; RCV002463450
• dbSNP Id: rs1555211927
• MyVariant Identifiers: chr12:g.121431472_121431474del (hg19) ; chr12:g.120993669_120993671del (hg38)
• ERepo: CA482164157/MONDO:0015967/017

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120993669_120993671del , CM000674.2:g.120993669_120993671del	GRCh38
NC_000012.11:g.121431472_121431474del , CM000674.1:g.121431472_121431474del	GRCh37
NC_000012.10:g.119915855_119915857del	NCBI36
NG_011731.2:g.19924_19926del , LRG_522:g.19924_19926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.676_678del	ENSP00000453965.2:p.Lys226del
ENST00000257555.11:c.676_678del MANE Select	ENSP00000257555.5:p.Lys226del
ENST00000257555.10:c.676_678del	ENSP00000257555.4:p.Lys226del
ENST00000400024.6:c.676_678del	ENSP00000476181.1:p.Lys226del
ENST00000402929.5:n.811_813del
ENST00000535955.5:n.43-3822_43-3820del
ENST00000538626.2:n.191-3822_191-3820del
ENST00000538646.5:c.527-495_527-493del	ENSP00000443964.1:n.527-495_527-493del
ENST00000540108.1:c.*116_*118del	ENSP00000445445.1:n.*116_*118del
ENST00000541395.5:c.676_678del	ENSP00000443112.1:p.Lys226del
ENST00000541924.5:c.676_678del	ENSP00000440361.1:p.Lys226del
ENST00000543427.5:c.633+43_633+45del	ENSP00000439721.2:n.633+43_633+45del
ENST00000544413.2:c.676_678del	ENSP00000438804.1:p.Lys226del
ENST00000544574.5:c.73-2948_73-2946del	ENSP00000438565.1:n.73-2948_73-2946del
ENST00000560968.5:c.819_821del
ENST00000615446.4:c.-257-2593_-257-2591del	ENSP00000483994.1:n.-257-2593_-257-2591del
ENST00000617366.4:c.586+90_586+92del	ENSP00000481967.1:n.586+90_586+92del
NM_000545.5:c.676_678del , LRG_522t1:c.676_678del	NP_000536.5:p.Lys226del
NM_000545.6:c.676_678del	NP_000536.5:p.Lys226del
NM_001306179.1:c.676_678del	NP_001293108.1:p.Lys226del
XM_005253931.2:c.676_678del	XP_005253988.1:p.Lys226del
XM_024449168.1:c.676_678del	XP_024304936.1:p.Lys226del
NM_000545.8:c.676_678del MANE Select	NP_000536.6:p.Lys226del
NM_001306179.2:c.676_678del	NP_001293108.2:p.Lys226del