ClinVar RCV:
ClinVar Variation:
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 |