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:
208642
ClinVar RCV Id:
RCV000190647
dbSNP Id:
rs797045118
gnomAD v3:
8-31065044-CAG-C
gnomAD v4:
8-31065044-CAG-C
MyVariant Identifiers:
chr8:g.30922562_30922563del (hg19)
chr8:g.30922561_30922562del (hg19)
chr8:g.31065046_31065047del (hg38)
chr8:g.31065045_31065046del (hg38)
PubMed:
PMID:26296701
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31065046_31065047del , CM000670.2:g.31065046_31065047del | GRCh38 |
| NC_000008.10:g.30922562_30922563del , CM000670.1:g.30922562_30922563del | GRCh37 |
| NC_000008.9:g.31042104_31042105del | NCBI36 |
| NG_008870.1:g.36785_36786del , LRG_524:g.36785_36786del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298139.7:c.487_488del MANE Select | ENSP00000298139.5:p.Asp163CysfsTer4 | |
| ENST00000650667.1:c.*101_*102del | ENSP00000498593.1:n.*101_*102del | |
| ENST00000298139.5:c.487_488del | ENSP00000298139.5:p.Asp163CysfsTer4 | |
| NM_000553.4:c.487_488del , LRG_524t1:c.487_488del | NP_000544.2:p.Asp163CysfsTer4 | |
| XM_011544639.1:c.487_488del | XP_011542941.1:p.Asp163CysfsTer4 | |
| XR_949470.1:n.760_761del | ||
| XR_949471.1:n.760_761del | ||
| XR_949472.1:n.760_761del | ||
| NM_000553.5:c.487_488del | NP_000544.2:p.Asp163CysfsTer4 | |
| XM_011544639.3:c.487_488del | XP_011542941.1:p.Asp163CysfsTer4 | |
| XM_024447265.1:c.277_278del | XP_024303033.1:p.Asp93CysfsTer4 | |
| XR_949470.3:n.788_789del | ||
| XR_949471.3:n.788_789del | ||
| XR_949472.3:n.788_789del | ||
| NM_000553.6:c.487_488del MANE Select | NP_000544.2:p.Asp163CysfsTer4 |