Canonical Allele Identifier: CA2621391078
Gene: HNF1A HGNC NCBI

Linked Data

gnomAD v4: 12-120997420-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997421del , CM000674.2:g.120997421del GRCh38
NC_000012.11:g.121435224del , CM000674.1:g.121435224del GRCh37
NC_000012.10:g.119919607del NCBI36
NG_011731.2:g.23676del , LRG_522:g.23676del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*57-53del ENSP00000453965.2:n.*57-53del
ENST00000257555.11:c.1310-53del MANE Select ENSP00000257555.5:n.1310-53del
ENST00000257555.10:c.1310-53del ENSP00000257555.4:n.1310-53del
ENST00000400024.6:c.1310-53del ENSP00000476181.1:n.1310-53del
ENST00000402929.5:n.2123del
ENST00000535955.5:n.43-70del
ENST00000538626.2:n.191-70del
ENST00000538646.5:c.*286-53del ENSP00000443964.1:n.*286-53del
ENST00000540108.1:c.*750-53del ENSP00000445445.1:n.*750-53del
ENST00000541395.5:c.1310-53del ENSP00000443112.1:n.1310-53del
ENST00000541924.5:c.*324-53del ENSP00000440361.1:n.*324-53del
ENST00000543255.1:n.354-53del
ENST00000543427.5:c.773-53del ENSP00000439721.2:n.773-53del
ENST00000544413.2:c.1310-53del ENSP00000438804.1:n.1310-53del
ENST00000544574.5:c.*73-53del ENSP00000438565.1:n.*73-53del
ENST00000560968.5:c.1127-53del
ENST00000615446.4:c.98-53del ENSP00000483994.1:n.98-53del
ENST00000617366.4:c.587-213del ENSP00000481967.1:n.587-213del
NM_000545.5:c.1310-53del , LRG_522t1:c.1310-53del NP_000536.5:n.1310-53del
NM_000545.6:c.1310-53del NP_000536.5:n.1310-53del
NM_001306179.1:c.1310-53del NP_001293108.1:n.1310-53del
XM_005253931.2:c.1310-53del XP_005253988.1:n.1310-53del
XM_024449168.1:c.1310-53del XP_024304936.1:n.1310-53del
NM_000545.8:c.1310-53del MANE Select NP_000536.6:n.1310-53del
NM_001306179.2:c.1310-53del NP_001293108.2:n.1310-53del
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