Canonical Allele Identifier: CA2573051042
Gene: HNF1A HGNC NCBI
C12orf43 HGNC NCBI

Linked Data

ClinVar Variation Id: 1700003
dbSNP Id: rs2135854461

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121001082del , CM000674.2:g.121001082del GRCh38
NC_000012.11:g.121438885del , CM000674.1:g.121438885del GRCh37
NC_000012.10:g.119923268del NCBI36
NG_011731.2:g.27337del , LRG_522:g.27337del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*533del (HNF1A) ENSP00000453965.2:n.*533del
ENST00000257555.11:c.1786del (HNF1A) MANE Select ENSP00000257555.5:p.Val596CysfsTer?
ENST00000257555.10:c.1786del (HNF1A) ENSP00000257555.4:p.Val596CysfsTer?
ENST00000288757.7:c.*3072del (C12orf43) MANE Select ENSP00000288757.5:n.*3072del
ENST00000540108.1:c.*1226del (HNF1A) ENSP00000445445.1:n.*1226del
ENST00000541395.5:c.1879del (HNF1A) ENSP00000443112.1:p.Val627CysfsTer?
ENST00000543427.5:c.1249del (HNF1A) ENSP00000439721.2:p.Val417CysfsTer?
ENST00000544413.2:c.1807del (HNF1A) ENSP00000438804.1:p.Val603CysfsTer?
ENST00000560968.5:c.1603del (HNF1A)
ENST00000615446.4:c.574del (HNF1A) ENSP00000483994.1:p.Val192CysfsTer?
ENST00000617366.4:c.*195del (HNF1A) ENSP00000481967.1:n.*195del
NM_000545.5:c.1786del , LRG_522t1:c.1786del (HNF1A) NP_000536.5:p.Val596CysfsTer?
NM_000545.6:c.1786del (HNF1A) NP_000536.5:p.Val596CysfsTer?
NM_001306179.1:c.1807del (HNF1A) NP_001293108.1:p.Val603CysfsTer?
XM_005253931.2:c.1879del (HNF1A) XP_005253988.1:p.Val627CysfsTer?
XM_024449168.1:c.1879del (HNF1A) XP_024304936.1:p.Val627CysfsTer?
NM_000545.8:c.1786del (HNF1A) MANE Select NP_000536.6:p.Val596CysfsTer?
NM_001286191.2:c.*3072del (C12orf43) NP_001273120.1:n.*3072del
NM_001286196.2:c.*3072del (C12orf43) NP_001273125.1:n.*3072del
NM_001306179.2:c.1807del (HNF1A) NP_001293108.2:p.Val603CysfsTer?
NM_022895.3:c.*3072del (C12orf43) MANE Select NP_075046.1:n.*3072del