Canonical Allele Identifier: CA2580611076
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2691842
ClinVar RCV Id: RCV003494039
ERepo: CA2580611076/MONDO:0015967/017
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993668del , CM000674.2:g.120993668del GRCh38
NC_000012.11:g.121431471del , CM000674.1:g.121431471del GRCh37
NC_000012.10:g.119915854del NCBI36
NG_011731.2:g.19923del , LRG_522:g.19923del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.675del ENSP00000453965.2:p.Ser225ArgfsTer8
ENST00000257555.11:c.675del MANE Select ENSP00000257555.5:p.Ser225ArgfsTer8
ENST00000257555.10:c.675del ENSP00000257555.4:p.Ser225ArgfsTer8
ENST00000400024.6:c.675del ENSP00000476181.1:p.Ser225ArgfsTer8
ENST00000402929.5:n.810del
ENST00000535955.5:n.43-3823del
ENST00000538626.2:n.191-3823del
ENST00000538646.5:c.527-496del ENSP00000443964.1:n.527-496del
ENST00000540108.1:c.*115del ENSP00000445445.1:n.*115del
ENST00000541395.5:c.675del ENSP00000443112.1:p.Ser225ArgfsTer8
ENST00000541924.5:c.675del ENSP00000440361.1:p.Ser225ArgfsTer8
ENST00000543427.5:c.633+42del ENSP00000439721.2:n.633+42del
ENST00000544413.2:c.675del ENSP00000438804.1:p.Ser225ArgfsTer8
ENST00000544574.5:c.73-2949del ENSP00000438565.1:n.73-2949del
ENST00000560968.5:c.818del
ENST00000615446.4:c.-257-2594del ENSP00000483994.1:n.-257-2594del
ENST00000617366.4:c.586+89del ENSP00000481967.1:n.586+89del
NM_000545.5:c.675del , LRG_522t1:c.675del NP_000536.5:p.Ser225ArgfsTer8
NM_000545.6:c.675del NP_000536.5:p.Ser225ArgfsTer8
NM_001306179.1:c.675del NP_001293108.1:p.Ser225ArgfsTer8
XM_005253931.2:c.675del XP_005253988.1:p.Ser225ArgfsTer8
XM_024449168.1:c.675del XP_024304936.1:p.Ser225ArgfsTer8
NM_000545.8:c.675del MANE Select NP_000536.6:p.Ser225ArgfsTer8
NM_001306179.2:c.675del NP_001293108.2:p.Ser225ArgfsTer8
Search 100 bp 5'
Search 100 bp 3'