Canonical Allele Identifier: CA684446703

Gene: HNF1A

Linked Data

• dbSNP Id: rs1164544747
• MyVariant Identifiers: chr12:g.121423990_121423991del (hg19) ; chr12:g.120986187_120986188del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120986189_120986190del , CM000674.2:g.120986189_120986190del	GRCh38
NC_000012.11:g.121423992_121423993del , CM000674.1:g.121423992_121423993del	GRCh37
NC_000012.10:g.119908375_119908376del	NCBI36
NG_011731.2:g.12444_12445del , LRG_522:g.12444_12445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.327-2644_327-2643del	ENSP00000453965.2:n.327-2644_327-2643del
ENST00000257555.11:c.327-2644_327-2643del MANE Select	ENSP00000257555.5:n.327-2644_327-2643del
ENST00000257555.10:c.327-2644_327-2643del	ENSP00000257555.4:n.327-2644_327-2643del
ENST00000400024.6:c.327-2644_327-2643del	ENSP00000476181.1:n.327-2644_327-2643del
ENST00000402929.5:n.462-2644_462-2643del
ENST00000535955.5:n.42+7497_42+7498del
ENST00000538626.2:n.190+7349_190+7350del
ENST00000538646.5:c.327-2644_327-2643del	ENSP00000443964.1:n.327-2644_327-2643del
ENST00000540108.1:c.326+7095_326+7096del	ENSP00000445445.1:n.326+7095_326+7096del
ENST00000541395.5:c.327-2644_327-2643del	ENSP00000443112.1:n.327-2644_327-2643del
ENST00000541924.5:c.327-2644_327-2643del	ENSP00000440361.1:n.327-2644_327-2643del
ENST00000543427.5:c.327-2644_327-2643del	ENSP00000439721.2:n.327-2644_327-2643del
ENST00000544413.2:c.327-2644_327-2643del	ENSP00000438804.1:n.327-2644_327-2643del
ENST00000544574.5:c.72+7349_72+7350del	ENSP00000438565.1:n.72+7349_72+7350del
ENST00000560968.5:c.470-2644_470-2643del
ENST00000615446.4:c.-258+7478_-258+7479del	ENSP00000483994.1:n.-258+7478_-258+7479del
ENST00000617366.4:c.327-2644_327-2643del	ENSP00000481967.1:n.327-2644_327-2643del
NM_000545.5:c.327-2644_327-2643del , LRG_522t1:c.327-2644_327-2643del	NP_000536.5:n.327-2644_327-2643del
NM_000545.6:c.327-2644_327-2643del	NP_000536.5:n.327-2644_327-2643del
NM_001306179.1:c.327-2644_327-2643del	NP_001293108.1:n.327-2644_327-2643del
XM_005253931.2:c.327-2644_327-2643del	XP_005253988.1:n.327-2644_327-2643del
XM_024449168.1:c.327-2644_327-2643del	XP_024304936.1:n.327-2644_327-2643del
NM_000545.8:c.327-2644_327-2643del MANE Select	NP_000536.6:n.327-2644_327-2643del
NM_001306179.2:c.327-2644_327-2643del	NP_001293108.2:n.327-2644_327-2643del