Canonical Allele Identifier: CA2621391162
Gene: HNF1A HGNC NCBI

Linked Data

gnomAD v4: 12-120997783-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997784del , CM000674.2:g.120997784del GRCh38
NC_000012.11:g.121435587del , CM000674.1:g.121435587del GRCh37
NC_000012.10:g.119919970del NCBI36
NG_011731.2:g.24039del , LRG_522:g.24039del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*248+119del ENSP00000453965.2:n.*248+119del
ENST00000257555.11:c.1501+119del MANE Select ENSP00000257555.5:n.1501+119del
ENST00000257555.10:c.1501+119del ENSP00000257555.4:n.1501+119del
ENST00000400024.6:c.1620del ENSP00000476181.1:p.Pro542ArgfsTer3
ENST00000402929.5:n.2486del
ENST00000535955.5:n.336del
ENST00000538626.2:n.484del
ENST00000538646.5:c.*596del ENSP00000443964.1:n.*596del
ENST00000540108.1:c.*941+119del ENSP00000445445.1:n.*941+119del
ENST00000541395.5:c.1501+119del ENSP00000443112.1:n.1501+119del
ENST00000541924.5:c.*634del ENSP00000440361.1:n.*634del
ENST00000543255.1:n.664del
ENST00000543427.5:c.964+119del ENSP00000439721.2:n.964+119del
ENST00000544413.2:c.1501+119del ENSP00000438804.1:n.1501+119del
ENST00000544574.5:c.*383del ENSP00000438565.1:n.*383del
ENST00000560968.5:c.1318+119del
ENST00000615446.4:c.289+119del ENSP00000483994.1:n.289+119del
ENST00000617366.4:c.618+119del ENSP00000481967.1:n.618+119del
NM_000545.5:c.1501+119del , LRG_522t1:c.1501+119del NP_000536.5:n.1501+119del
NM_000545.6:c.1501+119del NP_000536.5:n.1501+119del
NM_001306179.1:c.1501+119del NP_001293108.1:n.1501+119del
XM_005253931.2:c.1501+119del XP_005253988.1:n.1501+119del
XM_024449168.1:c.1501+119del XP_024304936.1:n.1501+119del
NM_000545.8:c.1501+119del MANE Select NP_000536.6:n.1501+119del
NM_001306179.2:c.1501+119del NP_001293108.2:n.1501+119del
Search 100 bp 5'
Search 100 bp 3'