Canonical Allele Identifier: CA2575322017
Gene: HNF1A HGNC NCBI

Linked Data

gnomAD v4: 12-120993514-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993515del , CM000674.2:g.120993515del GRCh38
NC_000012.11:g.121431318del , CM000674.1:g.121431318del GRCh37
NC_000012.10:g.119915701del NCBI36
NG_011731.2:g.19770del , LRG_522:g.19770del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.527-5del ENSP00000453965.2:n.527-5del
ENST00000257555.11:c.527-5del MANE Select ENSP00000257555.5:n.527-5del
ENST00000257555.10:c.527-5del ENSP00000257555.4:n.527-5del
ENST00000400024.6:c.527-5del ENSP00000476181.1:n.527-5del
ENST00000402929.5:n.662-5del
ENST00000535955.5:n.43-3976del
ENST00000538626.2:n.191-3976del
ENST00000538646.5:c.527-649del ENSP00000443964.1:n.527-649del
ENST00000540108.1:c.327-5del ENSP00000445445.1:n.327-5del
ENST00000541395.5:c.527-5del ENSP00000443112.1:n.527-5del
ENST00000541924.5:c.527-5del ENSP00000440361.1:n.527-5del
ENST00000543427.5:c.527-5del ENSP00000439721.2:n.527-5del
ENST00000544413.2:c.527-5del ENSP00000438804.1:n.527-5del
ENST00000544574.5:c.73-3102del ENSP00000438565.1:n.73-3102del
ENST00000560968.5:c.670-5del
ENST00000615446.4:c.-257-2747del ENSP00000483994.1:n.-257-2747del
ENST00000617366.4:c.527-5del ENSP00000481967.1:n.527-5del
NM_000545.5:c.527-5del , LRG_522t1:c.527-5del NP_000536.5:n.527-5del
NM_000545.6:c.527-5del NP_000536.5:n.527-5del
NM_001306179.1:c.527-5del NP_001293108.1:n.527-5del
XM_005253931.2:c.527-5del XP_005253988.1:n.527-5del
XM_024449168.1:c.527-5del XP_024304936.1:n.527-5del
NM_000545.8:c.527-5del MANE Select NP_000536.6:n.527-5del
NM_001306179.2:c.527-5del NP_001293108.2:n.527-5del
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