Linked Data
dbSNP Id:
rs994187670
gnomAD v2:
16-81388096-GT-G
gnomAD v3:
16-81354491-GT-G
gnomAD v4:
16-81354491-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81354496del , CM000678.2:g.81354496del | GRCh38 |
| NC_000016.9:g.81388101del , CM000678.1:g.81388101del | GRCh37 |
| NC_000016.8:g.79945602del | NCBI36 |
| NG_009007.1:g.44531del , LRG_242:g.44531del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*82del | ENSP00000498114.1:n.*82del | |
| ENST00000648994.2:c.374del MANE Select | ENSP00000497351.1:p.Leu125TrpfsTer? | |
| ENST00000650388.1:c.168-2289del | ENSP00000498081.1:n.168-2289del | |
| ENST00000674788.1:n.499del | ||
| ENST00000568107.2:c.374del | ENSP00000476795.1:p.Leu125TrpfsTer? | |
| NM_022041.3:c.374del , LRG_242t1:c.374del | NP_071324.1:p.Leu125TrpfsTer? | |
| XM_017023734.1:c.-266del | XP_016879223.1:n.-266del | |
| NM_001377486.1:c.-266del | NP_001364415.1:n.-266del | |
| NM_022041.4:c.374del MANE Select | NP_071324.1:p.Leu125TrpfsTer? |