ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32755518dup , CM000674.2:g.32755518dup | GRCh38 |
| NC_000012.11:g.32908452dup , CM000674.1:g.32908452dup | GRCh37 |
| NC_000012.10:g.32799719dup | NCBI36 |
| NG_028122.1:g.5438dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324868.13:c.359dup MANE Select | ENSP00000320658.8:p.Asp121ArgfsTer29 | |
| ENST00000324868.12:c.359dup | ENSP00000320658.8:p.Asp121ArgfsTer29 | |
| ENST00000548490.1:c.281dup | ENSP00000447710.1:p.Asp95ArgfsTer29 | |
| NM_001040436.2:c.359dup | NP_001035526.1:p.Asp121ArgfsTer29 | |
| XR_242891.3:n.446dup | ||
| XR_242892.3:n.446dup | ||
| XR_429036.1:n.446dup | ||
| XR_931296.1:n.446dup | ||
| XR_931297.1:n.446dup | ||
| XR_931298.1:n.446dup | ||
| XR_931299.1:n.446dup | ||
| XR_001748730.2:n.943dup | ||
| XR_002957331.1:n.943dup | ||
| XR_242892.5:n.943dup | ||
| XR_931296.3:n.943dup | ||
| NM_001040436.3:c.359dup MANE Select | NP_001035526.1:p.Asp121ArgfsTer29 |