Linked Data
ClinVar Variation Id:
370171
ClinVar RCV Id:
RCV000410209
dbSNP Id:
rs1057516288
gnomAD v4:
22-50627567-GCA-G
PubMed:
PMID:14517960
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50627570_50627571del , CM000684.2:g.50627570_50627571del | GRCh38 |
| NC_000022.10:g.51065998_51065999del , CM000684.1:g.51065998_51065999del | GRCh37 |
| NC_000022.9:g.49412864_49412865del | NCBI36 |
| NG_009260.2:g.5611_5612del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216124.10:c.211_212del MANE Select | ENSP00000216124.5:p.Cys71HisfsTer4 | |
| ENST00000216124.9:c.211_212del | ENSP00000216124.5:p.Cys71HisfsTer4 | |
| ENST00000356098.9:c.211_212del | ENSP00000348406.5:p.Cys71HisfsTer4 | |
| ENST00000395619.3:c.211_212del | ENSP00000378981.3:p.Cys71HisfsTer4 | |
| ENST00000395621.7:c.211_212del | ENSP00000378983.3:p.Cys71HisfsTer4 | |
| ENST00000453344.6:c.-34-163_-34-162del | ENSP00000412542.2:n.-34-163_-34-162del | |
| ENST00000551731.1:n.602_603del | ||
| NM_000487.5:c.211_212del | NP_000478.3:p.Cys71HisfsTer4 | |
| NM_001085425.2:c.211_212del | NP_001078894.2:p.Cys71HisfsTer4 | |
| NM_001085426.2:c.211_212del | NP_001078895.2:p.Cys71HisfsTer4 | |
| NM_001085427.2:c.211_212del | NP_001078896.2:p.Cys71HisfsTer4 | |
| NM_001085428.2:c.-34-163_-34-162del | NP_001078897.1:n.-34-163_-34-162del | |
| XM_011530690.1:c.-34-163_-34-162del | XP_011528992.1:n.-34-163_-34-162del | |
| XM_011530691.1:c.211_212del | XP_011528993.1:p.Cys71HisfsTer4 | |
| NM_001362782.1:c.-34-163_-34-162del | NP_001349711.1:n.-34-163_-34-162del | |
| XM_011530691.3:c.211_212del | XP_011528993.1:p.Cys71HisfsTer4 | |
| XM_017028800.1:c.211_212del | XP_016884289.1:p.Cys71HisfsTer4 | |
| XM_024452241.1:c.211_212del | XP_024308009.1:p.Cys71HisfsTer4 | |
| NM_000487.6:c.211_212del MANE Select | NP_000478.3:p.Cys71HisfsTer4 | |
| NM_001085425.3:c.211_212del | NP_001078894.2:p.Cys71HisfsTer4 | |
| NM_001085426.3:c.211_212del | NP_001078895.2:p.Cys71HisfsTer4 | |
| NM_001085427.3:c.211_212del | NP_001078896.2:p.Cys71HisfsTer4 | |
| NM_001085428.3:c.-34-163_-34-162del | NP_001078897.1:n.-34-163_-34-162del | |
| NM_001362782.2:c.-34-163_-34-162del | NP_001349711.1:n.-34-163_-34-162del |