Linked Data
ClinVar Variation Id:
1171645
dbSNP Id:
rs1565628380
gnomAD v3:
11-47343314-C-CGAGACAAAA
gnomAD v4:
11-47343314-C-CGAGACAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47343316_47343324dup , CM000673.2:g.47343316_47343324dup | GRCh38 |
| NC_000011.9:g.47364867_47364875dup , CM000673.1:g.47364867_47364875dup | GRCh37 |
| NC_000011.8:g.47321443_47321451dup | NCBI36 |
| NG_007667.1:g.14380_14388dup , LRG_386:g.14380_14388dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.1224-61_1224-53dup MANE Select | ENSP00000442795.1:n.1224-61_1224-53dup | |
| ENST00000256993.8:c.1223+169_1224-167dup | ENSP00000256993.5:n.1223+169_1224-167dup | |
| ENST00000399249.6:c.1224-61_1224-53dup | ENSP00000382193.2:n.1224-61_1224-53dup | |
| ENST00000544791.1:c.1224-61_1224-53dup | ENSP00000444259.1:n.1224-61_1224-53dup | |
| ENST00000545968.5:c.1224-61_1224-53dup | ENSP00000442795.1:n.1224-61_1224-53dup | |
| NM_000256.3:c.1224-61_1224-53dup , LRG_386t1:c.1224-61_1224-53dup MANE Select | NP_000247.2:n.1224-61_1224-53dup | |
| XM_011520117.1:c.1206-61_1206-53dup | XP_011518419.1:n.1206-61_1206-53dup | |
| XM_011520118.1:c.1224-61_1224-53dup | XP_011518420.1:n.1224-61_1224-53dup |