Linked Data
dbSNP Id:
rs1393276124
gnomAD v2:
16-16119006-GT-G
gnomAD v3:
16-16025149-GT-G
gnomAD v4:
16-16025149-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16025152del , CM000678.2:g.16025152del | GRCh38 |
| NC_000016.9:g.16119009del , CM000678.1:g.16119009del | GRCh37 |
| NC_000016.8:g.16026510del | NCBI36 |
| NG_028268.1:g.80576del | |
| NG_028268.2:g.80576del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399408.7:c.616-7957del | ENSP00000382340.4:n.616-7957del | |
| ENST00000399410.8:c.616-7957del MANE Select | ENSP00000382342.3:n.616-7957del | |
| ENST00000572882.3:c.616-7957del | ENSP00000461615.2:n.616-7957del | |
| ENST00000574224.2:n.691-7957del | ||
| ENST00000677164.1:c.490-7957del | ENSP00000502873.1:n.490-7957del | |
| ENST00000678422.1:c.616-7957del | ENSP00000503954.1:n.616-7957del | |
| ENST00000679043.1:n.568-7957del | ||
| ENST00000399408.6:c.-363-7957del | ENSP00000382340.3:n.-363-7957del | |
| ENST00000399410.7:c.616-7957del | ENSP00000382342.3:n.616-7957del | |
| ENST00000572882.2:c.311-7957del | ||
| ENST00000574224.1:n.216-7957del | ||
| NM_004996.3:c.616-7957del | NP_004987.2:n.616-7957del | |
| XM_011522497.1:c.592-7957del | XP_011520799.1:n.592-7957del | |
| XM_011522498.1:c.670-7957del | XP_011520800.1:n.670-7957del | |
| XM_011522498.2:c.670-7957del | XP_011520800.1:n.670-7957del | |
| XM_017023237.1:c.670-7957del | XP_016878726.1:n.670-7957del | |
| XM_017023238.1:c.544-7957del | XP_016878727.1:n.544-7957del | |
| XM_017023239.1:c.532-7957del | XP_016878728.1:n.532-7957del | |
| XM_017023240.1:c.670-7957del | XP_016878729.1:n.670-7957del | |
| XM_017023241.1:c.406-7957del | XP_016878730.1:n.406-7957del | |
| XM_017023242.1:c.670-7957del | XP_016878731.1:n.670-7957del | |
| XM_017023243.2:c.670-7957del | XP_016878732.1:n.670-7957del | |
| NM_004996.4:c.616-7957del MANE Select | NP_004987.2:n.616-7957del |