Linked Data
dbSNP Id:
rs779201314
ExAC:
8:87588005 A / AT
gnomAD v2:
8-87588005-A-AT
gnomAD v4:
8-86575777-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86575778dup , CM000670.2:g.86575778dup | GRCh38 |
| NC_000008.10:g.87588006dup , CM000670.1:g.87588006dup | GRCh37 |
| NC_000008.9:g.87657122dup | NCBI36 |
| NG_016980.1:g.172898dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.*26dup MANE Select | ENSP00000316605.5:n.*26dup | |
| ENST00000681546.1:n.2276dup | ||
| ENST00000681746.1:c.*867dup | ENSP00000505959.1:n.*867dup | |
| ENST00000320005.5:c.*26dup | ENSP00000316605.5:n.*26dup | |
| ENST00000517327.5:c.276+2911dup | ENSP00000428329.1:n.276+2911dup | |
| NM_019098.4:c.*26dup | NP_061971.3:n.*26dup | |
| XM_011517138.1:c.*26dup | XP_011515440.1:n.*26dup | |
| XM_011517138.2:c.*26dup | XP_011515440.1:n.*26dup | |
| NM_019098.5:c.*26dup MANE Select | NP_061971.3:n.*26dup |