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:
139536
ClinVar RCV Id:
RCV000128435
dbSNP Id:
rs886037665
PubMed:
PMID:24814191
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.62555911del , CM000663.2:g.62555911del | GRCh38 |
| NC_000001.10:g.63021582del , CM000663.1:g.63021582del | GRCh37 |
| NC_000001.9:g.62794170del | NCBI36 |
| NG_033073.1:g.137458del | |
| NG_033073.2:g.137458del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000635253.2:c.2510del MANE Select | ENSP00000489124.1:p.Asp837AlafsTer? | |
| ENST00000637208.1:c.*630del | ENSP00000490079.1:n.*630del | |
| ENST00000251157.10:c.2510del | ENSP00000251157.6:p.Asp837AlafsTer? | |
| ENST00000340370.10:c.2510del | ENSP00000340742.5:p.Asp837AlafsTer? | |
| ENST00000454575.6:c.2510del | ENSP00000413583.2:p.Asp837AlafsTer? | |
| ENST00000614472.4:c.2186del | ENSP00000483062.1:p.Asp729AlafsTer? | |
| ENST00000634264.1:c.2510del | ENSP00000489284.1:p.Asp837AlafsTer? | |
| ENST00000634652.1:c.329del | ENSP00000489450.1:p.Asp110AlafsTer? | |
| ENST00000634929.1:c.364del | ||
| ENST00000635123.1:c.2510del | ENSP00000489499.1:p.Asp837AlafsTer? | |
| ENST00000635253.1:c.2510del | ENSP00000489124.1:p.Asp837AlafsTer? | |
| NM_001271999.1:c.2510del | NP_001258928.1:p.Asp837AlafsTer? | |
| NM_001272000.1:c.2510del | NP_001258929.1:p.Asp837AlafsTer? | |
| NM_001272001.1:c.2510del | NP_001258930.1:p.Asp837AlafsTer? | |
| NM_033407.3:c.2510del | NP_212132.2:p.Asp837AlafsTer? | |
| XM_005271292.1:c.2510del | XP_005271349.1:p.Asp837AlafsTer? | |
| XM_011542326.1:c.2510del | XP_011540628.1:p.Asp837AlafsTer? | |
| XM_011542327.1:c.2510del | XP_011540629.1:p.Asp837AlafsTer? | |
| XM_011542328.1:c.2510del | XP_011540630.1:p.Asp837AlafsTer? | |
| XM_011542329.1:c.2510del | XP_011540631.1:p.Asp837AlafsTer? | |
| XM_011542330.1:c.2510del | XP_011540632.1:p.Asp837AlafsTer? | |
| NM_001330614.1:c.2510del | NP_001317543.1:p.Asp837AlafsTer? | |
| XM_011542326.2:c.2510del | XP_011540628.1:p.Asp837AlafsTer? | |
| XM_011542327.2:c.2510del | XP_011540629.1:p.Asp837AlafsTer? | |
| XM_011542328.2:c.2510del | XP_011540630.1:p.Asp837AlafsTer? | |
| XM_011542330.2:c.2510del | XP_011540632.1:p.Asp837AlafsTer? | |
| XM_017002639.1:c.2510del | XP_016858128.1:p.Asp837AlafsTer? | |
| XM_017002640.1:c.2510del | XP_016858129.1:p.Asp837AlafsTer? | |
| NM_001367561.1:c.2510del MANE Select | NP_001354490.1:p.Asp837AlafsTer? | |
| NM_001271999.2:c.2510del | NP_001258928.1:p.Asp837AlafsTer? | |
| NM_001272000.2:c.2510del | NP_001258929.1:p.Asp837AlafsTer? | |
| NM_001272001.2:c.2510del | NP_001258930.1:p.Asp837AlafsTer? | |
| NM_001330614.2:c.2510del | NP_001317543.1:p.Asp837AlafsTer? | |
| NM_033407.4:c.2510del | NP_212132.2:p.Asp837AlafsTer? |