UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
gnomAD v4:
18-58195628-TCTCCTCGCCGCCG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.58195629_58195641del , CM000680.2:g.58195629_58195641del | GRCh38 |
| NC_000018.9:g.55862861_55862873del , CM000680.1:g.55862861_55862873del | GRCh37 |
| NC_000018.8:g.54013859_54013871del | NCBI36 |
| NG_029954.1:g.156252_156264del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400345.8:c.122+29768_122+29780del MANE Select | ENSP00000383199.2:n.122+29768_122+29780del | |
| ENST00000674613.1:n.98-49798_98-49786del | ||
| ENST00000674845.1:c.*628+29768_*628+29780del | ENSP00000502309.1:n.*628+29768_*628+29780del | |
| ENST00000675137.1:n.244+29768_244+29780del | ||
| ENST00000675147.1:c.101+29768_101+29780del | ENSP00000501840.1:n.101+29768_101+29780del | |
| ENST00000675502.1:c.-242+29768_-242+29780del | ENSP00000502428.1:n.-242+29768_-242+29780del | |
| ENST00000675801.1:c.-242+29768_-242+29780del | ENSP00000502688.1:n.-242+29768_-242+29780del | |
| ENST00000675865.1:c.-264_-252del | ENSP00000502003.1:n.-264_-252del | |
| ENST00000676024.1:c.122+29768_122+29780del | ENSP00000502105.1:n.122+29768_122+29780del | |
| ENST00000676223.1:c.83+29768_83+29780del | ENSP00000502361.1:n.83+29768_83+29780del | |
| ENST00000676226.1:c.-307_-295del | ENSP00000502325.1:n.-307_-295del | |
| ENST00000676251.1:n.200_212del | ||
| ENST00000256830.13:c.122+29768_122+29780del | ENSP00000256830.8:n.122+29768_122+29780del | |
| ENST00000356462.10:c.122+29768_122+29780del | ENSP00000348847.5:n.122+29768_122+29780del | |
| ENST00000357895.9:c.98+29768_98+29780del | ENSP00000350569.4:n.98+29768_98+29780del | |
| ENST00000382850.8:c.122+29768_122+29780del | ENSP00000372301.3:n.122+29768_122+29780del | |
| ENST00000400345.7:c.122+29768_122+29780del | ENSP00000383199.2:n.122+29768_122+29780del | |
| ENST00000435432.6:c.-320+29768_-320+29780del | ENSP00000393395.1:n.-320+29768_-320+29780del | |
| ENST00000456173.6:c.-346_-334del | ENSP00000405440.1:n.-346_-334del | |
| ENST00000456986.5:c.-242+29768_-242+29780del | ENSP00000411947.1:n.-242+29768_-242+29780del | |
| ENST00000585363.5:n.159+29768_159+29780del | ||
| ENST00000586263.5:c.98+29768_98+29780del | ENSP00000468546.1:n.98+29768_98+29780del | |
| ENST00000588516.5:n.1222+29768_1222+29780del | ||
| ENST00000589054.5:c.48+150921_48+150933del | ENSP00000465669.1:n.48+150921_48+150933del | |
| ENST00000591989.5:n.170+29768_170+29780del | ||
| ENST00000592846.5:c.-301+29768_-301+29780del | ENSP00000466776.1:n.-301+29768_-301+29780del | |
| NM_001144964.1:c.-242+29768_-242+29780del | NP_001138436.1:n.-242+29768_-242+29780del | |
| NM_001144965.1:c.-242+29768_-242+29780del | NP_001138437.1:n.-242+29768_-242+29780del | |
| NM_001144967.2:c.122+29768_122+29780del | NP_001138439.1:n.122+29768_122+29780del | |
| NM_001144968.1:c.98+29768_98+29780del | NP_001138440.1:n.98+29768_98+29780del | |
| NM_001144969.1:c.98+29768_98+29780del | NP_001138441.1:n.98+29768_98+29780del | |
| NM_001144970.2:c.-346_-334del | NP_001138442.1:n.-346_-334del | |
| NM_001144971.1:c.-320+29768_-320+29780del | NP_001138443.1:n.-320+29768_-320+29780del | |
| NM_001243960.1:c.122+29768_122+29780del | NP_001230889.1:n.122+29768_122+29780del | |
| NM_015277.5:c.122+29768_122+29780del | NP_056092.2:n.122+29768_122+29780del | |
| XM_006722426.2:c.122+29768_122+29780del | XP_006722489.1:n.122+29768_122+29780del | |
| XM_006722428.2:c.122+29768_122+29780del | XP_006722491.1:n.122+29768_122+29780del | |
| XM_006722430.2:c.-346_-334del | XP_006722493.1:n.-346_-334del | |
| XM_011525887.1:c.98+29768_98+29780del | XP_011524189.1:n.98+29768_98+29780del | |
| XR_935527.1:n.70_82del | ||
| XR_935528.1:n.70_82del | ||
| XR_935529.1:n.36_48del | ||
| XR_935530.1:n.56_68del | ||
| XM_006722426.4:c.122+29768_122+29780del | XP_006722489.1:n.122+29768_122+29780del | |
| XM_006722428.4:c.122+29768_122+29780del | XP_006722491.1:n.122+29768_122+29780del | |
| XM_006722430.4:c.-346_-334del | XP_006722493.1:n.-346_-334del | |
| XM_011525887.3:c.98+29768_98+29780del | XP_011524189.1:n.98+29768_98+29780del | |
| XM_017025678.2:c.122+29768_122+29780del | XP_016881167.1:n.122+29768_122+29780del | |
| XM_017025679.2:c.-346_-334del | XP_016881168.1:n.-346_-334del | |
| XM_017025680.2:c.-346_-334del | XP_016881169.1:n.-346_-334del | |
| XM_017025681.2:c.-346_-334del | XP_016881170.1:n.-346_-334del | |
| XM_024451129.1:c.-320+29768_-320+29780del | XP_024306897.1:n.-320+29768_-320+29780del | |
| XM_024451131.1:c.-242+29768_-242+29780del | XP_024306899.1:n.-242+29768_-242+29780del | |
| XM_024451134.1:c.-301+29768_-301+29780del | XP_024306902.1:n.-301+29768_-301+29780del | |
| XM_024451135.1:c.-242+29768_-242+29780del | XP_024306903.1:n.-242+29768_-242+29780del | |
| XM_024451136.1:c.-242+29768_-242+29780del | XP_024306904.1:n.-242+29768_-242+29780del | |
| XM_024451137.1:c.-320+29768_-320+29780del | XP_024306905.1:n.-320+29768_-320+29780del | |
| XR_935527.2:n.65_77del | ||
| XR_935528.2:n.65_77del | ||
| XR_935529.2:n.36_48del | ||
| NM_001144967.3:c.122+29768_122+29780del MANE Select | NP_001138439.1:n.122+29768_122+29780del | |
| NM_001144965.2:c.-242+29768_-242+29780del | NP_001138437.1:n.-242+29768_-242+29780del | |
| NM_001144968.2:c.98+29768_98+29780del | NP_001138440.1:n.98+29768_98+29780del | |
| NM_001144969.2:c.98+29768_98+29780del | NP_001138441.1:n.98+29768_98+29780del | |
| NM_001144970.3:c.-346_-334del | NP_001138442.1:n.-346_-334del | |
| NM_001144971.2:c.-320+29768_-320+29780del | NP_001138443.1:n.-320+29768_-320+29780del | |
| NM_001243960.2:c.122+29768_122+29780del | NP_001230889.1:n.122+29768_122+29780del | |
| NM_015277.6:c.122+29768_122+29780del | NP_056092.2:n.122+29768_122+29780del |