Linked Data
dbSNP Id:
rs1193878344
gnomAD v2:
16-81348933-CGGAGGCGG-C
gnomAD v3:
16-81315328-CGGAGGCGG-C
gnomAD v4:
16-81315328-CGGAGGCGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81315331_81315338del , CM000678.2:g.81315331_81315338del | GRCh38 |
| NC_000016.9:g.81348936_81348943del , CM000678.1:g.81348936_81348943del | GRCh37 |
| NC_000016.8:g.79906437_79906444del | NCBI36 |
| NG_009007.1:g.5366_5373del , LRG_242:g.5366_5373del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.167+51_167+58del | ENSP00000498114.1:n.167+51_167+58del | |
| ENST00000648994.2:c.167+51_167+58del MANE Select | ENSP00000497351.1:n.167+51_167+58del | |
| ENST00000650388.1:c.167+51_167+58del | ENSP00000498081.1:n.167+51_167+58del | |
| ENST00000674788.1:n.292+51_292+58del | ||
| ENST00000568107.2:c.167+51_167+58del | ENSP00000476795.1:n.167+51_167+58del | |
| NM_022041.3:c.167+51_167+58del , LRG_242t1:c.167+51_167+58del | NP_071324.1:n.167+51_167+58del | |
| XM_017023734.1:c.-358+51_-358+58del | XP_016879223.1:n.-358+51_-358+58del | |
| NM_001377486.1:c.-358+51_-358+58del | NP_001364415.1:n.-358+51_-358+58del | |
| NM_022041.4:c.167+51_167+58del MANE Select | NP_071324.1:n.167+51_167+58del |