Canonical Allele Identifier: CA658658175
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 447493
ClinVar RCV Id: RCV000518587 RCV001843360 RCV002329217
dbSNP Id: rs1555260207
MyVariant Identifiers: chr12:g.121416575del (hg19) chr12:g.120978772del (hg38)
ERepo: CA658658175/MONDO:0015967/017
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120978772del , CM000674.2:g.120978772del GRCh38
NC_000012.11:g.121416575del , CM000674.1:g.121416575del GRCh37
NC_000012.10:g.119900958del NCBI36
NG_011731.2:g.5027del , LRG_522:g.5027del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.4del ENSP00000453965.2:p.Val2PhefsTer4
ENST00000257555.11:c.4del MANE Select ENSP00000257555.5:p.Val2PhefsTer4
ENST00000257555.10:c.4del ENSP00000257555.4:p.Val2PhefsTer4
ENST00000400024.6:c.4del ENSP00000476181.1:p.Val2PhefsTer4
ENST00000402929.5:n.139del
ENST00000535955.5:n.42+80del
ENST00000538626.2:n.122del
ENST00000538646.5:c.4del ENSP00000443964.1:p.Val2PhefsTer4
ENST00000540108.1:c.4del ENSP00000445445.1:p.Val2PhefsTer4
ENST00000541395.5:c.4del ENSP00000443112.1:p.Val2PhefsTer4
ENST00000541924.5:c.4del ENSP00000440361.1:p.Val2PhefsTer4
ENST00000543427.5:c.4del ENSP00000439721.2:p.Val2PhefsTer4
ENST00000544413.2:c.4del ENSP00000438804.1:p.Val2PhefsTer4
ENST00000544574.5:c.4del ENSP00000438565.1:p.Val2PhefsTer4
ENST00000560968.5:c.147del
ENST00000615446.4:c.-258+61del ENSP00000483994.1:n.-258+61del
ENST00000617366.4:c.4del ENSP00000481967.1:p.Val2PhefsTer4
NM_000545.5:c.4del , LRG_522t1:c.4del NP_000536.5:p.Val2PhefsTer4
NM_000545.6:c.4del NP_000536.5:p.Val2PhefsTer4
NM_001306179.1:c.4del NP_001293108.1:p.Val2PhefsTer4
XM_005253931.2:c.4del XP_005253988.1:p.Val2PhefsTer4
XM_024449168.1:c.4del XP_024304936.1:p.Val2PhefsTer4
NM_000545.8:c.4del MANE Select NP_000536.6:p.Val2PhefsTer4
NM_001306179.2:c.4del NP_001293108.2:p.Val2PhefsTer4
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Search 100 bp 3'