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
ClinVar Variation Id:
182412
dbSNP Id:
rs730881675
gnomAD v4:
9-21971105-GCGTCGTGCACGGGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21971108_21971121del , CM000671.2:g.21971108_21971121del | GRCh38 |
| NC_000009.11:g.21971107_21971120del , CM000671.1:g.21971107_21971120del | GRCh37 |
| NC_000009.10:g.21961107_21961120del | NCBI36 |
| NG_007485.1:g.28373_28386del , LRG_11:g.28373_28386del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304494.10:c.240_253del MANE Select | ENSP00000307101.5:p.Pro81CysfsTer? | |
| ENST00000404796.3:c.348-58325_348-58312del | ENSP00000385916.2:n.348-58325_348-58312del | |
| ENST00000579755.2:c.283_296del MANE Plus Clinical | ENSP00000462950.1:p.Thr95LeufsTer? | |
| ENST00000304494.9:c.240_253del | ENSP00000307101.5:p.Pro81CysfsTer? | |
| ENST00000361570.4:c.283_295del | ||
| ENST00000380150.2:n.214_227del | ||
| ENST00000380151.3:c.514_527del | ENSP00000369496.3:n.514_527del | |
| ENST00000404796.2:c.348-58325_348-58312del | ENSP00000385916.2:n.348-58325_348-58312del | |
| ENST00000479692.2:c.87_100del | ENSP00000466887.1:p.Pro30CysfsTer? | |
| ENST00000494262.5:c.87_100del | ENSP00000464952.1:p.Pro30CysfsTer? | |
| ENST00000497750.1:c.87_100del | ENSP00000468510.1:p.Pro30CysfsTer? | |
| ENST00000498124.1:c.240_253del | ENSP00000418915.1:p.Pro81CysfsTer? | |
| ENST00000498628.6:c.87_100del | ENSP00000467857.1:p.Pro30CysfsTer? | |
| ENST00000530628.2:c.283_296del | ENSP00000432664.2:p.Thr95LeufsTer? | |
| ENST00000578845.2:c.87_100del | ENSP00000467390.1:p.Pro30CysfsTer? | |
| ENST00000579122.1:c.240_253del | ENSP00000464202.1:p.Pro81CysfsTer? | |
| ENST00000579755.1:c.283_296del | ENSP00000462950.1:p.Thr95LeufsTer? | |
| NM_000077.4:c.240_253del , LRG_11t1:c.240_253del | NP_000068.1:p.Pro81CysfsTer? | |
| NM_001195132.1:c.240_253del | NP_001182061.1:p.Pro81CysfsTer? | |
| NM_058195.3:c.283_296del , LRG_11t2:c.283_296del | NP_478102.2:p.Thr95LeufsTer? | |
| NM_058197.4:c.514_527del | NP_478104.2:n.514_527del | |
| XM_005251343.1:c.87_100del | XP_005251400.1:p.Pro30CysfsTer? | |
| XM_011517675.1:c.240_253del | XP_011515977.1:p.Pro81CysfsTer? | |
| XM_011517676.1:c.240_253del | XP_011515978.1:p.Pro81CysfsTer? | |
| XM_011517679.1:c.87_100del | XP_011515981.1:p.Pro30CysfsTer? | |
| XR_929159.1:n.641_654del | ||
| XR_929161.1:n.430_443del | ||
| XR_929162.1:n.430_443del | ||
| XR_929163.1:n.379_392del | ||
| XR_929164.1:n.162_175del | ||
| NM_001363763.1:c.87_100del | NP_001350692.1:p.Pro30CysfsTer? | |
| XM_011517675.2:c.240_253del | XP_011515977.1:p.Pro81CysfsTer? | |
| XM_011517676.2:c.240_253del | XP_011515978.1:p.Pro81CysfsTer? | |
| XR_929159.2:n.570_583del | ||
| NM_001363763.2:c.87_100del | NP_001350692.1:p.Pro30CysfsTer? | |
| NM_000077.5:c.240_253del MANE Select | NP_000068.1:p.Pro81CysfsTer? | |
| NM_001195132.2:c.240_253del | NP_001182061.1:p.Pro81CysfsTer? | |
| NM_058195.4:c.283_296del MANE Plus Clinical | NP_478102.2:p.Thr95LeufsTer? | |
| NM_058197.5:c.*163_*176del | NP_478104.2:n.*163_*176del |