Canonical Allele Identifier: CA684444447

Gene: HNF1A

Linked Data

• dbSNP Id: rs1297221427
• gnomAD v3: 12-120982649-TGTA-T
• gnomAD v4: 12-120982649-TGTA-T
• MyVariant Identifiers: chr12:g.121420453_121420455del (hg19) ; chr12:g.120982650_120982652del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120982653_120982655del , CM000674.2:g.120982653_120982655del	GRCh38
NC_000012.11:g.121420456_121420458del , CM000674.1:g.121420456_121420458del	GRCh37
NC_000012.10:g.119904839_119904841del	NCBI36
NG_011731.2:g.8908_8910del , LRG_522:g.8908_8910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.326+3559_326+3561del	ENSP00000453965.2:n.326+3559_326+3561del
ENST00000257555.11:c.326+3559_326+3561del MANE Select	ENSP00000257555.5:n.326+3559_326+3561del
ENST00000257555.10:c.326+3559_326+3561del	ENSP00000257555.4:n.326+3559_326+3561del
ENST00000400024.6:c.326+3559_326+3561del	ENSP00000476181.1:n.326+3559_326+3561del
ENST00000402929.5:n.461+3559_461+3561del
ENST00000535955.5:n.42+3961_42+3963del
ENST00000538626.2:n.190+3813_190+3815del
ENST00000538646.5:c.326+3559_326+3561del	ENSP00000443964.1:n.326+3559_326+3561del
ENST00000540108.1:c.326+3559_326+3561del	ENSP00000445445.1:n.326+3559_326+3561del
ENST00000541395.5:c.326+3559_326+3561del	ENSP00000443112.1:n.326+3559_326+3561del
ENST00000541924.5:c.326+3559_326+3561del	ENSP00000440361.1:n.326+3559_326+3561del
ENST00000543427.5:c.326+3559_326+3561del	ENSP00000439721.2:n.326+3559_326+3561del
ENST00000544413.2:c.326+3559_326+3561del	ENSP00000438804.1:n.326+3559_326+3561del
ENST00000544574.5:c.72+3813_72+3815del	ENSP00000438565.1:n.72+3813_72+3815del
ENST00000560968.5:c.469+3559_469+3561del
ENST00000615446.4:c.-258+3942_-258+3944del	ENSP00000483994.1:n.-258+3942_-258+3944del
ENST00000617366.4:c.326+3559_326+3561del	ENSP00000481967.1:n.326+3559_326+3561del
NM_000545.5:c.326+3559_326+3561del , LRG_522t1:c.326+3559_326+3561del	NP_000536.5:n.326+3559_326+3561del
NM_000545.6:c.326+3559_326+3561del	NP_000536.5:n.326+3559_326+3561del
NM_001306179.1:c.326+3559_326+3561del	NP_001293108.1:n.326+3559_326+3561del
XM_005253931.2:c.326+3559_326+3561del	XP_005253988.1:n.326+3559_326+3561del
XM_024449168.1:c.326+3559_326+3561del	XP_024304936.1:n.326+3559_326+3561del
NM_000545.8:c.326+3559_326+3561del MANE Select	NP_000536.6:n.326+3559_326+3561del
NM_001306179.2:c.326+3559_326+3561del	NP_001293108.2:n.326+3559_326+3561del