Linked Data
gnomAD v4:
16-81315013-AGCCGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81315021_81315025del , CM000678.2:g.81315021_81315025del | GRCh38 |
| NC_000016.9:g.81348626_81348630del , CM000678.1:g.81348626_81348630del | GRCh37 |
| NC_000016.8:g.79906127_79906131del | NCBI36 |
| NG_009007.1:g.5056_5060del , LRG_242:g.5056_5060del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.-93_-89del | ENSP00000498114.1:n.-93_-89del | |
| ENST00000648994.2:c.-93_-89del MANE Select | ENSP00000497351.1:n.-93_-89del | |
| ENST00000674788.1:n.33_37del | ||
| ENST00000568107.2:c.-93_-89del | ENSP00000476795.1:n.-93_-89del | |
| NM_022041.3:c.-93_-89del , LRG_242t1:c.-93_-89del | NP_071324.1:n.-93_-89del | |
| XM_017023734.1:c.-617_-613del | XP_016879223.1:n.-617_-613del | |
| NM_001377486.1:c.-617_-613del | NP_001364415.1:n.-617_-613del | |
| NM_022041.4:c.-93_-89del MANE Select | NP_071324.1:n.-93_-89del |