Canonical Allele Identifier: CA2695199180
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2630662
ClinVar RCV Id: RCV003402464
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994393del , CM000674.2:g.120994393del GRCh38
NC_000012.11:g.121432196del , CM000674.1:g.121432196del GRCh37
NC_000012.10:g.119916579del NCBI36
NG_011731.2:g.20648del , LRG_522:g.20648del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+193del ENSP00000453965.2:n.750+193del
ENST00000257555.11:c.943del MANE Select ENSP00000257555.5:p.Ser315ValfsTer27
ENST00000257555.10:c.943del ENSP00000257555.4:p.Ser315ValfsTer27
ENST00000400024.6:c.943del ENSP00000476181.1:p.Ser315ValfsTer27
ENST00000402929.5:n.1078del
ENST00000535955.5:n.43-3098del
ENST00000538626.2:n.191-3098del
ENST00000538646.5:c.756del ENSP00000443964.1:p.Val253Ter
ENST00000540108.1:c.*383del ENSP00000445445.1:n.*383del
ENST00000541395.5:c.943del ENSP00000443112.1:p.Ser315ValfsTer27
ENST00000541924.5:c.713+687del ENSP00000440361.1:n.713+687del
ENST00000543427.5:c.633+767del ENSP00000439721.2:n.633+767del
ENST00000544413.2:c.943del ENSP00000438804.1:p.Ser315ValfsTer27
ENST00000544574.5:c.73-2224del ENSP00000438565.1:n.73-2224del
ENST00000560968.5:c.893+193del
ENST00000615446.4:c.-257-1869del ENSP00000483994.1:n.-257-1869del
ENST00000617366.4:c.586+814del ENSP00000481967.1:n.586+814del
NM_000545.5:c.943del , LRG_522t1:c.943del NP_000536.5:p.Ser315ValfsTer27
NM_000545.6:c.943del NP_000536.5:p.Ser315ValfsTer27
NM_001306179.1:c.943del NP_001293108.1:p.Ser315ValfsTer27
XM_005253931.2:c.943del XP_005253988.1:p.Ser315ValfsTer27
XM_024449168.1:c.943del XP_024304936.1:p.Ser315ValfsTer27
NM_000545.8:c.943del MANE Select NP_000536.6:p.Ser315ValfsTer27
NM_001306179.2:c.943del NP_001293108.2:p.Ser315ValfsTer27
Search 100 bp 5'
Search 100 bp 3'