ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138783285_138783286del , CM000667.2:g.138783285_138783286del | GRCh38 |
| NC_000005.9:g.138118974_138118975del , CM000667.1:g.138118974_138118975del | GRCh37 |
| NC_000005.8:g.138146873_138146874del | NCBI36 |
| NG_047029.1:g.34890_34891del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302763.12:c.214_215del MANE Select | ENSP00000304669.7:p.Phe72LeufsTer6 | |
| ENST00000302763.11:c.214_215del | ENSP00000304669.7:p.Phe72LeufsTer6 | |
| ENST00000517980.5:c.214_215del | ENSP00000428439.1:p.Phe72LeufsTer6 | |
| ENST00000518825.5:c.214_215del | ENSP00000427821.1:p.Phe72LeufsTer6 | |
| ENST00000518910.5:c.-8-26753_-8-26752del | ENSP00000430626.1:n.-8-26753_-8-26752del | |
| ENST00000519113.5:c.214_215del | ENSP00000430078.1:p.Phe72LeufsTer6 | |
| ENST00000519309.5:c.*160_*161del | ENSP00000430671.1:n.*160_*161del | |
| ENST00000520158.5:c.214_215del | ENSP00000429457.1:p.Phe72LeufsTer6 | |
| ENST00000520339.5:c.214_215del | ENSP00000428202.1:p.Phe72LeufsTer6 | |
| ENST00000521724.5:c.105+1256_105+1257del | ENSP00000431033.1:n.105+1256_105+1257del | |
| ENST00000522227.5:c.214_215del | ENSP00000429636.1:p.Phe72LeufsTer6 | |
| ENST00000523912.5:c.214_215del | ENSP00000430304.1:p.Phe72LeufsTer6 | |
| ENST00000524127.5:c.214_215del | ENSP00000428049.1:p.Phe72LeufsTer6 | |
| ENST00000627109.2:c.214_215del | ENSP00000486200.1:p.Phe72LeufsTer6 | |
| NM_001290307.1:c.214_215del | NP_001277236.1:p.Phe72LeufsTer6 | |
| NM_001290309.1:c.-9+1256_-9+1257del | NP_001277238.1:n.-9+1256_-9+1257del | |
| NM_001290310.1:c.-6+13_-6+14del | NP_001277239.1:n.-6+13_-6+14del | |
| NM_001903.3:c.214_215del | NP_001894.2:p.Phe72LeufsTer6 | |
| XM_006714536.2:c.214_215del | XP_006714599.1:p.Phe72LeufsTer6 | |
| XM_011543172.1:c.214_215del | XP_011541474.1:p.Phe72LeufsTer6 | |
| NM_001290307.2:c.214_215del | NP_001277236.1:p.Phe72LeufsTer6 | |
| NM_001290309.2:c.-9+1256_-9+1257del | NP_001277238.1:n.-9+1256_-9+1257del | |
| NM_001290310.2:c.-6+13_-6+14del | NP_001277239.1:n.-6+13_-6+14del | |
| NM_001323982.1:c.214_215del | NP_001310911.1:p.Phe72LeufsTer6 | |
| NM_001323983.1:c.214_215del | NP_001310912.1:p.Phe72LeufsTer6 | |
| NM_001323984.1:c.214_215del | NP_001310913.1:p.Phe72LeufsTer6 | |
| NM_001323985.1:c.214_215del | NP_001310914.1:p.Phe72LeufsTer6 | |
| NM_001323986.1:c.214_215del | NP_001310915.1:p.Phe72LeufsTer6 | |
| NM_001903.4:c.214_215del | NP_001894.2:p.Phe72LeufsTer6 | |
| NM_001903.5:c.214_215del MANE Select | NP_001894.2:p.Phe72LeufsTer6 | |
| NM_001290309.3:c.-9+1256_-9+1257del | NP_001277238.1:n.-9+1256_-9+1257del | |
| NM_001290310.3:c.-6+13_-6+14del | NP_001277239.1:n.-6+13_-6+14del | |
| NM_001323982.2:c.214_215del | NP_001310911.1:p.Phe72LeufsTer6 | |
| NM_001323984.2:c.214_215del | NP_001310913.1:p.Phe72LeufsTer6 | |
| NM_001323985.2:c.214_215del | NP_001310914.1:p.Phe72LeufsTer6 | |
| NM_001323986.2:c.214_215del | NP_001310915.1:p.Phe72LeufsTer6 | |
| NM_001290307.3:c.214_215del | NP_001277236.1:p.Phe72LeufsTer6 |