Canonical Allele Identifier: CA2695217504

Gene: HNF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120989011_120989012del , CM000674.2:g.120989011_120989012del	GRCh38
NC_000012.11:g.121426814_121426815del , CM000674.1:g.121426814_121426815del	GRCh37
NC_000012.10:g.119911197_119911198del	NCBI36
NG_011731.2:g.15266_15267del , LRG_522:g.15266_15267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.505_506del	ENSP00000453965.2:p.Lys169AlafsTer18
ENST00000257555.11:c.505_506del MANE Select	ENSP00000257555.5:p.Lys169AlafsTer18
ENST00000257555.10:c.505_506del	ENSP00000257555.4:p.Lys169AlafsTer18
ENST00000400024.6:c.505_506del	ENSP00000476181.1:p.Lys169AlafsTer18
ENST00000402929.5:n.640_641del
ENST00000535955.5:n.43-8480_43-8479del
ENST00000538626.2:n.191-8480_191-8479del
ENST00000538646.5:c.505_506del	ENSP00000443964.1:p.Lys169AlafsTer?
ENST00000540108.1:c.327-4509_327-4508del	ENSP00000445445.1:n.327-4509_327-4508del
ENST00000541395.5:c.505_506del	ENSP00000443112.1:p.Lys169AlafsTer18
ENST00000541924.5:c.505_506del	ENSP00000440361.1:p.Lys169AlafsTer18
ENST00000543427.5:c.505_506del	ENSP00000439721.2:p.Lys169AlafsTer18
ENST00000544413.2:c.505_506del	ENSP00000438804.1:p.Lys169AlafsTer18
ENST00000544574.5:c.73-7606_73-7605del	ENSP00000438565.1:n.73-7606_73-7605del
ENST00000560968.5:c.648_649del
ENST00000615446.4:c.-257-7251_-257-7250del	ENSP00000483994.1:n.-257-7251_-257-7250del
ENST00000617366.4:c.505_506del	ENSP00000481967.1:p.Lys169AlafsTer18
NM_000545.5:c.505_506del , LRG_522t1:c.505_506del	NP_000536.5:p.Lys169AlafsTer18
NM_000545.6:c.505_506del	NP_000536.5:p.Lys169AlafsTer18
NM_001306179.1:c.505_506del	NP_001293108.1:p.Lys169AlafsTer18
XM_005253931.2:c.505_506del	XP_005253988.1:p.Lys169AlafsTer18
XM_024449168.1:c.505_506del	XP_024304936.1:p.Lys169AlafsTer18
NM_000545.8:c.505_506del MANE Select	NP_000536.6:p.Lys169AlafsTer18
NM_001306179.2:c.505_506del	NP_001293108.2:p.Lys169AlafsTer18