Linked Data
ClinVar Variation Id:
1024101
dbSNP Id:
rs1567491395
gnomAD v2:
16-81388038-ATGT-A
gnomAD v4:
16-81354433-ATGT-A
MyVariant Identifiers:
chr16:g.81388039_81388041del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81354438_81354440del , CM000678.2:g.81354438_81354440del | GRCh38 |
| NC_000016.9:g.81388043_81388045del , CM000678.1:g.81388043_81388045del | GRCh37 |
| NC_000016.8:g.79945544_79945546del | NCBI36 |
| NG_009007.1:g.44473_44475del , LRG_242:g.44473_44475del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*24_*26del | ENSP00000498114.1:n.*24_*26del | |
| ENST00000648994.2:c.316_318del MANE Select | ENSP00000497351.1:p.Val106del | |
| ENST00000650388.1:c.168-2347_168-2345del | ENSP00000498081.1:n.168-2347_168-2345del | |
| ENST00000674788.1:n.441_443del | ||
| ENST00000568107.2:c.316_318del | ENSP00000476795.1:p.Val106del | |
| NM_022041.3:c.316_318del , LRG_242t1:c.316_318del | NP_071324.1:p.Val106del | |
| XM_017023734.1:c.-324_-322del | XP_016879223.1:n.-324_-322del | |
| NM_001377486.1:c.-324_-322del | NP_001364415.1:n.-324_-322del | |
| NM_022041.4:c.316_318del MANE Select | NP_071324.1:p.Val106del |