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:
97315
ClinVar RCV Id:
RCV000083561
dbSNP Id:
rs72558496
PubMed:
PMID:11793468
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38352776_38352779del , CM000685.2:g.38352776_38352779del | GRCh38 |
| NC_000023.10:g.38212029_38212032del , CM000685.1:g.38212029_38212032del | GRCh37 |
| NC_000023.9:g.38096973_38096976del | NCBI36 |
| NG_008471.1:g.5294_5297del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.77+3_77+6del MANE Select | ENSP00000039007.4:n.77+3_77+6del | |
| ENST00000643344.1:c.77+3_77+6del | ENSP00000496606.1:n.77+3_77+6del | |
| ENST00000039007.4:c.77+3_77+6del | ENSP00000039007.4:n.77+3_77+6del | |
| ENST00000465127.1:c.172-313345_172-313342del | ENSP00000417050.1:n.172-313345_172-313342del | |
| ENST00000488812.1:n.169+3_169+6del | ||
| NM_000531.5:c.77+3_77+6del | NP_000522.3:n.77+3_77+6del | |
| XM_017029556.1:c.77+3_77+6del | XP_016885045.1:n.77+3_77+6del | |
| NM_000531.6:c.77+3_77+6del MANE Select | NP_000522.3:n.77+3_77+6del |