Canonical Allele Identifier: CA2067669573

Gene: HNF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120986186_120986188delinsCCT , CM000674.2:g.120986186_120986188delinsCCT	GRCh38
NC_000012.11:g.121423989_121423991delinsCCT , CM000674.1:g.121423989_121423991delinsCCT	GRCh37
NC_000012.10:g.119908372_119908374delinsCCT	NCBI36
NG_011731.2:g.12441_12443delinsCCT , LRG_522:g.12441_12443delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.327-2647_327-2645delinsCCT	ENSP00000453965.2:n.327-2647_327-2645delinsCCT
ENST00000257555.11:c.327-2647_327-2645delinsCCT MANE Select	ENSP00000257555.5:n.327-2647_327-2645delinsCCT
ENST00000257555.10:c.327-2647_327-2645delinsCCT	ENSP00000257555.4:n.327-2647_327-2645delinsCCT
ENST00000400024.6:c.327-2647_327-2645delinsCCT	ENSP00000476181.1:n.327-2647_327-2645delinsCCT
ENST00000402929.5:n.462-2647_462-2645delinsCCT
ENST00000535955.5:n.42+7494_42+7496delinsCCT
ENST00000538626.2:n.190+7346_190+7348delinsCCT
ENST00000538646.5:c.327-2647_327-2645delinsCCT	ENSP00000443964.1:n.327-2647_327-2645delinsCCT
ENST00000540108.1:c.326+7092_326+7094delinsCCT	ENSP00000445445.1:n.326+7092_326+7094delinsCCT
ENST00000541395.5:c.327-2647_327-2645delinsCCT	ENSP00000443112.1:n.327-2647_327-2645delinsCCT
ENST00000541924.5:c.327-2647_327-2645delinsCCT	ENSP00000440361.1:n.327-2647_327-2645delinsCCT
ENST00000543427.5:c.327-2647_327-2645delinsCCT	ENSP00000439721.2:n.327-2647_327-2645delinsCCT
ENST00000544413.2:c.327-2647_327-2645delinsCCT	ENSP00000438804.1:n.327-2647_327-2645delinsCCT
ENST00000544574.5:c.72+7346_72+7348delinsCCT	ENSP00000438565.1:n.72+7346_72+7348delinsCCT
ENST00000560968.5:c.470-2647_470-2645delinsCCT
ENST00000615446.4:c.-258+7475_-258+7477delinsCCT	ENSP00000483994.1:n.-258+7475_-258+7477delinsCCT
ENST00000617366.4:c.327-2647_327-2645delinsCCT	ENSP00000481967.1:n.327-2647_327-2645delinsCCT
NM_000545.5:c.327-2647_327-2645delinsCCT , LRG_522t1:c.327-2647_327-2645delinsCCT	NP_000536.5:n.327-2647_327-2645delinsCCT
NM_000545.6:c.327-2647_327-2645delinsCCT	NP_000536.5:n.327-2647_327-2645delinsCCT
NM_001306179.1:c.327-2647_327-2645delinsCCT	NP_001293108.1:n.327-2647_327-2645delinsCCT
XM_005253931.2:c.327-2647_327-2645delinsCCT	XP_005253988.1:n.327-2647_327-2645delinsCCT
XM_024449168.1:c.327-2647_327-2645delinsCCT	XP_024304936.1:n.327-2647_327-2645delinsCCT
NM_000545.8:c.327-2647_327-2645delinsCCT MANE Select	NP_000536.6:n.327-2647_327-2645delinsCCT
NM_001306179.2:c.327-2647_327-2645delinsCCT	NP_001293108.2:n.327-2647_327-2645delinsCCT