Linked Data
ClinVar Variation Id:
557532
ClinVar RCV Id:
RCV001787349
dbSNP Id:
rs1554972934
MyVariant Identifiers:
chr11:g.61397765dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61397765dup , CM000673.2:g.61397765dup | GRCh38 |
| NC_000011.9:g.61165237dup , CM000673.1:g.61165237dup | GRCh37 |
| NC_000011.8:g.60921813dup | NCBI36 |
| NG_032976.1:g.10406dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.10:c.230-9dup | ENSP00000334844.5:n.230-9dup | |
| ENST00000544795.6:n.544dup | ||
| ENST00000684926.1:n.283dup | ||
| ENST00000688959.1:c.-21-17dup | ENSP00000509213.1:n.-21-17dup | |
| ENST00000690736.1:c.267dup | ENSP00000508542.1:p.Ser90ValfsTer2 | |
| ENST00000515837.7:c.230-9dup MANE Select | ENSP00000440638.1:n.230-9dup | |
| ENST00000334888.9:c.230-9dup | ENSP00000334844.5:n.230-9dup | |
| ENST00000398979.7:c.47-9dup | ENSP00000381950.3:n.47-9dup | |
| ENST00000515837.6:c.230-9dup | ENSP00000440638.1:n.230-9dup | |
| ENST00000544795.5:n.283dup | ||
| NM_001173990.2:c.230-9dup | NP_001167461.1:n.230-9dup | |
| NM_001173991.2:c.230-9dup | NP_001167462.1:n.230-9dup | |
| NM_016499.5:c.47-9dup | NP_057583.2:n.47-9dup | |
| XM_005274039.3:c.47-9dup | XP_005274096.1:n.47-9dup | |
| NM_001330285.1:c.47-9dup | NP_001317214.1:n.47-9dup | |
| XM_005274039.4:c.47-9dup | XP_005274096.1:n.47-9dup | |
| NM_001173990.3:c.230-9dup MANE Select | NP_001167461.1:n.230-9dup | |
| NM_001173991.3:c.230-9dup | NP_001167462.1:n.230-9dup | |
| NM_001330285.2:c.47-9dup | NP_001317214.1:n.47-9dup | |
| NM_016499.6:c.47-9dup | NP_057583.2:n.47-9dup |