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:
97236
ClinVar RCV Id:
RCV000083476
dbSNP Id:
rs72556285
PubMed:
PMID:9452024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38401420_38401425del , CM000685.2:g.38401420_38401425del | GRCh38 |
| NC_000023.10:g.38260673_38260678del , CM000685.1:g.38260673_38260678del | GRCh37 |
| NC_000023.9:g.38145617_38145622del | NCBI36 |
| NG_008471.1:g.53938_53943del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.532_537del MANE Select | ENSP00000039007.4:p.Thr178_Leu179del | |
| ENST00000643344.1:c.*282_*287del | ENSP00000496606.1:n.*282_*287del | |
| ENST00000039007.4:c.532_537del | ENSP00000039007.4:p.Thr178_Leu179del | |
| ENST00000465127.1:c.172-264701_172-264696del | ENSP00000417050.1:n.172-264701_172-264696del | |
| ENST00000488812.1:n.569_574del | ||
| NM_000531.5:c.532_537del | NP_000522.3:p.Thr178_Leu179del | |
| XM_017029556.1:c.532_537del | XP_016885045.1:p.Thr178_Leu179del | |
| NM_000531.6:c.532_537del MANE Select | NP_000522.3:p.Thr178_Leu179del |