Linked Data
dbSNP Id:
rs750185333
ExAC:
11:116703578 CA / C
gnomAD v2:
11-116703578-CA-C
gnomAD v3:
11-116832862-CA-C
gnomAD v4:
11-116832862-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832864del , CM000673.2:g.116832864del | GRCh38 |
| NC_000011.9:g.116703580del , CM000673.1:g.116703580del | GRCh37 |
| NC_000011.8:g.116208790del | NCBI36 |
| NG_008949.1:g.7957del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.280del MANE Select | ENSP00000227667.2:p.Thr94LeufsTer? | |
| ENST00000227667.7:c.280del | ENSP00000227667.2:p.Thr94LeufsTer? | |
| ENST00000375345.3:c.334del | ENSP00000364494.1:p.Thr112LeufsTer? | |
| ENST00000630701.1:c.334del | ENSP00000486182.1:p.Thr112LeufsTer? | |
| NM_000040.1:c.280del | NP_000031.1:p.Thr94LeufsTer? | |
| NM_000040.2:c.280del | NP_000031.1:p.Thr94LeufsTer? | |
| NM_000040.3:c.280del MANE Select | NP_000031.1:p.Thr94LeufsTer? |