Canonical Allele Identifier: CA684449475
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs1384627636
gnomAD v3: 12-120989189-GC-G
gnomAD v4: 12-120989189-GC-G
MyVariant Identifiers: chr12:g.121426993del (hg19) chr12:g.120989190del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120989191del , CM000674.2:g.120989191del GRCh38
NC_000012.11:g.121426994del , CM000674.1:g.121426994del GRCh37
NC_000012.10:g.119911377del NCBI36
NG_011731.2:g.15446del , LRG_522:g.15446del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.526+159del ENSP00000453965.2:n.526+159del
ENST00000257555.11:c.526+159del MANE Select ENSP00000257555.5:n.526+159del
ENST00000257555.10:c.526+159del ENSP00000257555.4:n.526+159del
ENST00000400024.6:c.526+159del ENSP00000476181.1:n.526+159del
ENST00000402929.5:n.661+159del
ENST00000535955.5:n.43-8300del
ENST00000538626.2:n.191-8300del
ENST00000538646.5:c.526+159del ENSP00000443964.1:n.526+159del
ENST00000540108.1:c.327-4329del ENSP00000445445.1:n.327-4329del
ENST00000541395.5:c.526+159del ENSP00000443112.1:n.526+159del
ENST00000541924.5:c.526+159del ENSP00000440361.1:n.526+159del
ENST00000543427.5:c.526+159del ENSP00000439721.2:n.526+159del
ENST00000544413.2:c.526+159del ENSP00000438804.1:n.526+159del
ENST00000544574.5:c.73-7426del ENSP00000438565.1:n.73-7426del
ENST00000560968.5:c.669+159del
ENST00000615446.4:c.-257-7071del ENSP00000483994.1:n.-257-7071del
ENST00000617366.4:c.526+159del ENSP00000481967.1:n.526+159del
NM_000545.5:c.526+159del , LRG_522t1:c.526+159del NP_000536.5:n.526+159del
NM_000545.6:c.526+159del NP_000536.5:n.526+159del
NM_001306179.1:c.526+159del NP_001293108.1:n.526+159del
XM_005253931.2:c.526+159del XP_005253988.1:n.526+159del
XM_024449168.1:c.526+159del XP_024304936.1:n.526+159del
NM_000545.8:c.526+159del MANE Select NP_000536.6:n.526+159del
NM_001306179.2:c.526+159del NP_001293108.2:n.526+159del
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