Linked Data
dbSNP Id:
rs778463167
ExAC:
11:116703515 AC / A
gnomAD v2:
11-116703515-AC-A
gnomAD v4:
11-116832799-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832800del , CM000673.2:g.116832800del | GRCh38 |
| NC_000011.9:g.116703516del , CM000673.1:g.116703516del | GRCh37 |
| NC_000011.8:g.116208726del | NCBI36 |
| NG_008949.1:g.7893del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.216del MANE Select | ENSP00000227667.2:p.Tyr73ThrfsTer? | |
| ENST00000227667.7:c.216del | ENSP00000227667.2:p.Tyr73ThrfsTer? | |
| ENST00000375345.3:c.270del | ENSP00000364494.1:p.Tyr91ThrfsTer? | |
| ENST00000630701.1:c.270del | ENSP00000486182.1:p.Tyr91ThrfsTer? | |
| NM_000040.1:c.216del | NP_000031.1:p.Tyr73ThrfsTer? | |
| NM_000040.2:c.216del | NP_000031.1:p.Tyr73ThrfsTer? | |
| NM_000040.3:c.216del MANE Select | NP_000031.1:p.Tyr73ThrfsTer? |