Canonical Allele Identifier: CA2580614580

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 1256574
• ClinVar RCV Id: RCV001665502
• dbSNP Id: rs2135833007

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120989037_120989040del , CM000674.2:g.120989037_120989040del	GRCh38
NC_000012.11:g.121426840_121426843del , CM000674.1:g.121426840_121426843del	GRCh37
NC_000012.10:g.119911223_119911226del	NCBI36
NG_011731.2:g.15292_15295del , LRG_522:g.15292_15295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.526+5_526+8del	ENSP00000453965.2:n.526+5_526+8del
ENST00000257555.11:c.526+5_526+8del MANE Select	ENSP00000257555.5:n.526+5_526+8del
ENST00000257555.10:c.526+5_526+8del	ENSP00000257555.4:n.526+5_526+8del
ENST00000400024.6:c.526+5_526+8del	ENSP00000476181.1:n.526+5_526+8del
ENST00000402929.5:n.661+5_661+8del
ENST00000535955.5:n.43-8454_43-8451del
ENST00000538626.2:n.191-8454_191-8451del
ENST00000538646.5:c.526+5_526+8del	ENSP00000443964.1:n.526+5_526+8del
ENST00000540108.1:c.327-4483_327-4480del	ENSP00000445445.1:n.327-4483_327-4480del
ENST00000541395.5:c.526+5_526+8del	ENSP00000443112.1:n.526+5_526+8del
ENST00000541924.5:c.526+5_526+8del	ENSP00000440361.1:n.526+5_526+8del
ENST00000543427.5:c.526+5_526+8del	ENSP00000439721.2:n.526+5_526+8del
ENST00000544413.2:c.526+5_526+8del	ENSP00000438804.1:n.526+5_526+8del
ENST00000544574.5:c.73-7580_73-7577del	ENSP00000438565.1:n.73-7580_73-7577del
ENST00000560968.5:c.669+5_669+8del
ENST00000615446.4:c.-257-7225_-257-7222del	ENSP00000483994.1:n.-257-7225_-257-7222del
ENST00000617366.4:c.526+5_526+8del	ENSP00000481967.1:n.526+5_526+8del
NM_000545.5:c.526+5_526+8del , LRG_522t1:c.526+5_526+8del	NP_000536.5:n.526+5_526+8del
NM_000545.6:c.526+5_526+8del	NP_000536.5:n.526+5_526+8del
NM_001306179.1:c.526+5_526+8del	NP_001293108.1:n.526+5_526+8del
XM_005253931.2:c.526+5_526+8del	XP_005253988.1:n.526+5_526+8del
XM_024449168.1:c.526+5_526+8del	XP_024304936.1:n.526+5_526+8del
NM_000545.8:c.526+5_526+8del MANE Select	NP_000536.6:n.526+5_526+8del
NM_001306179.2:c.526+5_526+8del	NP_001293108.2:n.526+5_526+8del