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:
56020
ClinVar RCV Id:
RCV000049429
dbSNP Id:
rs386833501
PubMed:
PMID:11241838
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981713_149981714del , CM000667.2:g.149981713_149981714del | GRCh38 |
| NC_000005.9:g.149361276_149361277del , CM000667.1:g.149361276_149361277del | GRCh37 |
| NC_000005.8:g.149341469_149341470del | NCBI36 |
| NG_007147.2:g.22831_22832del , LRG_684:g.22831_22832del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286298.5:c.2120_2121del MANE Select | ENSP00000286298.4:p.Leu707ProfsTer4 | |
| ENST00000286298.4:c.2120_2121del | ENSP00000286298.4:p.Leu707ProfsTer4 | |
| ENST00000503336.1:c.372+3362_372+3363del | ENSP00000426053.1:n.372+3362_372+3363del | |
| NM_000112.3:c.2120_2121del , LRG_684t1:c.2120_2121del | NP_000103.2:p.Leu707ProfsTer4 | |
| XM_017009191.2:c.2120_2121del | XP_016864680.1:p.Leu707ProfsTer4 | |
| NM_000112.4:c.2120_2121del MANE Select | NP_000103.2:p.Leu707ProfsTer4 |