Canonical Allele Identifier: CA2697551554
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2714000
ClinVar RCV Id: RCV003550692
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994161del , CM000674.2:g.120994161del GRCh38
NC_000012.11:g.121431964del , CM000674.1:g.121431964del GRCh37
NC_000012.10:g.119916347del NCBI36
NG_011731.2:g.20416del , LRG_522:g.20416del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.714-3del ENSP00000453965.2:n.714-3del
ENST00000257555.11:c.714-3del MANE Select ENSP00000257555.5:n.714-3del
ENST00000257555.10:c.714-3del ENSP00000257555.4:n.714-3del
ENST00000400024.6:c.714-3del ENSP00000476181.1:n.714-3del
ENST00000402929.5:n.849-3del
ENST00000535955.5:n.43-3330del
ENST00000538626.2:n.191-3330del
ENST00000538646.5:c.527-3del ENSP00000443964.1:n.527-3del
ENST00000540108.1:c.*154-3del ENSP00000445445.1:n.*154-3del
ENST00000541395.5:c.714-3del ENSP00000443112.1:n.714-3del
ENST00000541924.5:c.713+455del ENSP00000440361.1:n.713+455del
ENST00000543427.5:c.633+535del ENSP00000439721.2:n.633+535del
ENST00000544413.2:c.714-3del ENSP00000438804.1:n.714-3del
ENST00000544574.5:c.73-2456del ENSP00000438565.1:n.73-2456del
ENST00000560968.5:c.857-3del
ENST00000615446.4:c.-257-2101del ENSP00000483994.1:n.-257-2101del
ENST00000617366.4:c.586+582del ENSP00000481967.1:n.586+582del
NM_000545.5:c.714-3del , LRG_522t1:c.714-3del NP_000536.5:n.714-3del
NM_000545.6:c.714-3del NP_000536.5:n.714-3del
NM_001306179.1:c.714-3del NP_001293108.1:n.714-3del
XM_005253931.2:c.714-3del XP_005253988.1:n.714-3del
XM_024449168.1:c.714-3del XP_024304936.1:n.714-3del
NM_000545.8:c.714-3del MANE Select NP_000536.6:n.714-3del
NM_001306179.2:c.714-3del NP_001293108.2:n.714-3del
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