Canonical Allele Identifier: CA2580612120
Gene: HNF1A HGNC NCBI
C12orf43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121001056_121001066del , CM000674.2:g.121001056_121001066del GRCh38
NC_000012.11:g.121438859_121438869del , CM000674.1:g.121438859_121438869del GRCh37
NC_000012.10:g.119923242_119923252del NCBI36
NG_011731.2:g.27311_27321del , LRG_522:g.27311_27321del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*516-9_*517del (HNF1A)
ENST00000257555.11:c.1769-9_1770del (HNF1A)
ENST00000257555.10:c.1769-9_1770del (HNF1A)
ENST00000288757.7:c.*3089_*3099del (C12orf43) MANE Select ENSP00000288757.5:n.*3089_*3099del
ENST00000540108.1:c.*1209-9_*1210del (HNF1A)
ENST00000541395.5:c.1862-9_1863del (HNF1A)
ENST00000543427.5:c.1232-9_1233del (HNF1A)
ENST00000544413.2:c.1790-9_1791del (HNF1A)
ENST00000560968.5:c.1586-9_1587del (HNF1A)
ENST00000615446.4:c.557-9_558del (HNF1A)
ENST00000617366.4:c.*178-9_*179del (HNF1A)
NM_000545.5:c.1769-9_1770del , LRG_522t1:c.1769-9_1770del (HNF1A)
NM_000545.6:c.1769-9_1770del (HNF1A)
NM_001306179.1:c.1790-9_1791del (HNF1A)
XM_005253931.2:c.1862-9_1863del (HNF1A)
XM_024449168.1:c.1862-9_1863del (HNF1A)
NM_000545.8:c.1769-9_1770del (HNF1A)
NM_001286191.2:c.*3089_*3099del (C12orf43) NP_001273120.1:n.*3089_*3099del
NM_001286196.2:c.*3089_*3099del (C12orf43) NP_001273125.1:n.*3089_*3099del
NM_001306179.2:c.1790-9_1791del (HNF1A)
NM_022895.3:c.*3089_*3099del (C12orf43) MANE Select NP_075046.1:n.*3089_*3099del