Linked Data
dbSNP Id:
rs1368740604
gnomAD v2:
18-55862738-GCGCAGGGCCCTA-G
gnomAD v4:
18-58195506-GCGCAGGGCCCTA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.58195508_58195519del , CM000680.2:g.58195508_58195519del | GRCh38 |
| NC_000018.9:g.55862740_55862751del , CM000680.1:g.55862740_55862751del | GRCh37 |
| NC_000018.8:g.54013738_54013749del | NCBI36 |
| NG_029954.1:g.156131_156142del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400345.8:c.122+29647_122+29658del MANE Select | ENSP00000383199.2:n.122+29647_122+29658de... | |
| ENST00000674613.1:n.98-49919_98-49908del | ||
| ENST00000674845.1:c.*628+29647_*628+29658del | ENSP00000502309.1:n.*628+29647_*628+29658... | |
| ENST00000675137.1:n.244+29647_244+29658del | ||
| ENST00000675147.1:c.101+29647_101+29658del | ENSP00000501840.1:n.101+29647_101+29658de... | |
| ENST00000675502.1:c.-242+29647_-242+29658del | ENSP00000502428.1:n.-242+29647_-242+29658... | |
| ENST00000675801.1:c.-242+29647_-242+29658del | ENSP00000502688.1:n.-242+29647_-242+29658... | |
| ENST00000675865.1:c.-385_-374del | ENSP00000502003.1:n.-385_-374del | |
| ENST00000676024.1:c.122+29647_122+29658del | ENSP00000502105.1:n.122+29647_122+29658de... | |
| ENST00000676223.1:c.83+29647_83+29658del | ENSP00000502361.1:n.83+29647_83+29658del | |
| ENST00000676226.1:c.-428_-417del | ENSP00000502325.1:n.-428_-417del | |
| ENST00000676251.1:n.79_90del | ||
| ENST00000256830.13:c.122+29647_122+29658del | ENSP00000256830.8:n.122+29647_122+29658de... | |
| ENST00000356462.10:c.122+29647_122+29658del | ENSP00000348847.5:n.122+29647_122+29658de... | |
| ENST00000357895.9:c.98+29647_98+29658del | ENSP00000350569.4:n.98+29647_98+29658del | |
| ENST00000382850.8:c.122+29647_122+29658del | ENSP00000372301.3:n.122+29647_122+29658de... | |
| ENST00000400345.7:c.122+29647_122+29658del | ENSP00000383199.2:n.122+29647_122+29658de... | |
| ENST00000435432.6:c.-320+29647_-320+29658del | ENSP00000393395.1:n.-320+29647_-320+29658... | |
| ENST00000456173.6:c.-467_-456del | ENSP00000405440.1:n.-467_-456del | |
| ENST00000456986.5:c.-242+29647_-242+29658del | ENSP00000411947.1:n.-242+29647_-242+29658... | |
| ENST00000585363.5:n.159+29647_159+29658del | ||
| ENST00000586263.5:c.98+29647_98+29658del | ENSP00000468546.1:n.98+29647_98+29658del | |
| ENST00000588516.5:n.1222+29647_1222+29658del | ||
| ENST00000589054.5:c.48+150800_48+150811del | ENSP00000465669.1:n.48+150800_48+150811de... | |
| ENST00000591989.5:n.170+29647_170+29658del | ||
| ENST00000592846.5:c.-301+29647_-301+29658del | ENSP00000466776.1:n.-301+29647_-301+29658... | |
| NM_001144964.1:c.-242+29647_-242+29658del | NP_001138436.1:n.-242+29647_-242+29658del... | |
| NM_001144965.1:c.-242+29647_-242+29658del | NP_001138437.1:n.-242+29647_-242+29658del... | |
| NM_001144967.2:c.122+29647_122+29658del | NP_001138439.1:n.122+29647_122+29658del | |
| NM_001144968.1:c.98+29647_98+29658del | NP_001138440.1:n.98+29647_98+29658del | |
| NM_001144969.1:c.98+29647_98+29658del | NP_001138441.1:n.98+29647_98+29658del | |
| NM_001144970.2:c.-467_-456del | NP_001138442.1:n.-467_-456del | |
| NM_001144971.1:c.-320+29647_-320+29658del | NP_001138443.1:n.-320+29647_-320+29658del... | |
| NM_001243960.1:c.122+29647_122+29658del | NP_001230889.1:n.122+29647_122+29658del | |
| NM_015277.5:c.122+29647_122+29658del | NP_056092.2:n.122+29647_122+29658del | |
| XM_006722426.2:c.122+29647_122+29658del | XP_006722489.1:n.122+29647_122+29658del | |
| XM_006722428.2:c.122+29647_122+29658del | XP_006722491.1:n.122+29647_122+29658del | |
| XM_006722430.2:c.-467_-456del | XP_006722493.1:n.-467_-456del | |
| XM_011525887.1:c.98+29647_98+29658del | XP_011524189.1:n.98+29647_98+29658del | |
| XR_935527.1:n.112+81_112+92del | ||
| XR_935528.1:n.112+81_112+92del | ||
| XR_935529.1:n.157+2_157+13del | ||
| XR_935530.1:n.98+81_98+92del | ||
| XM_006722426.4:c.122+29647_122+29658del | XP_006722489.1:n.122+29647_122+29658del | |
| XM_006722428.4:c.122+29647_122+29658del | XP_006722491.1:n.122+29647_122+29658del | |
| XM_006722430.4:c.-467_-456del | XP_006722493.1:n.-467_-456del | |
| XM_011525887.3:c.98+29647_98+29658del | XP_011524189.1:n.98+29647_98+29658del | |
| XM_017025678.2:c.122+29647_122+29658del | XP_016881167.1:n.122+29647_122+29658del | |
| XM_017025679.2:c.-467_-456del | XP_016881168.1:n.-467_-456del | |
| XM_017025680.2:c.-467_-456del | XP_016881169.1:n.-467_-456del | |
| XM_017025681.2:c.-467_-456del | XP_016881170.1:n.-467_-456del | |
| XM_024451129.1:c.-320+29647_-320+29658del | XP_024306897.1:n.-320+29647_-320+29658del... | |
| XM_024451131.1:c.-242+29647_-242+29658del | XP_024306899.1:n.-242+29647_-242+29658del... | |
| XM_024451134.1:c.-301+29647_-301+29658del | XP_024306902.1:n.-301+29647_-301+29658del... | |
| XM_024451135.1:c.-242+29647_-242+29658del | XP_024306903.1:n.-242+29647_-242+29658del... | |
| XM_024451136.1:c.-242+29647_-242+29658del | XP_024306904.1:n.-242+29647_-242+29658del... | |
| XM_024451137.1:c.-320+29647_-320+29658del | XP_024306905.1:n.-320+29647_-320+29658del... | |
| XR_935527.2:n.107+81_107+92del | ||
| XR_935528.2:n.107+81_107+92del | ||
| XR_935529.2:n.157+2_157+13del | ||
| NM_001144967.3:c.122+29647_122+29658del MANE Select | NP_001138439.1:n.122+29647_122+29658del | |
| NM_001144965.2:c.-242+29647_-242+29658del | NP_001138437.1:n.-242+29647_-242+29658del... | |
| NM_001144968.2:c.98+29647_98+29658del | NP_001138440.1:n.98+29647_98+29658del | |
| NM_001144969.2:c.98+29647_98+29658del | NP_001138441.1:n.98+29647_98+29658del | |
| NM_001144970.3:c.-467_-456del | NP_001138442.1:n.-467_-456del | |
| NM_001144971.2:c.-320+29647_-320+29658del | NP_001138443.1:n.-320+29647_-320+29658del... | |
| NM_001243960.2:c.122+29647_122+29658del | NP_001230889.1:n.122+29647_122+29658del | |
| NM_015277.6:c.122+29647_122+29658del | NP_056092.2:n.122+29647_122+29658del |