Linked Data
dbSNP Id:
rs1212323858
gnomAD v2:
16-3786983-TC-T
gnomAD v3:
16-3736982-TC-T
gnomAD v4:
16-3736982-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3736984del , CM000678.2:g.3736984del | GRCh38 |
| NC_000016.9:g.3786985del , CM000678.1:g.3786985del | GRCh37 |
| NC_000016.8:g.3726986del | NCBI36 |
| NG_009873.1:g.148138del | |
| NG_009873.2:g.148731del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4395-168del MANE Select | ENSP00000262367.5:n.4395-168del | |
| ENST00000262367.9:c.4395-168del | ENSP00000262367.5:n.4395-168del | |
| ENST00000382070.7:c.4281-168del | ENSP00000371502.3:n.4281-168del | |
| ENST00000570939.2:c.3030-168del | ENSP00000461002.2:n.3030-168del | |
| ENST00000571763.5:n.17del | ||
| ENST00000574740.1:n.216-168del | ||
| ENST00000576720.1:n.3218-168del | ||
| NM_001079846.1:c.4281-168del | NP_001073315.1:n.4281-168del | |
| NM_004380.2:c.4395-168del | NP_004371.2:n.4395-168del | |
| XM_005255124.3:c.4350-168del | XP_005255181.1:n.4350-168del | |
| XM_005255125.3:c.3978-168del | XP_005255182.1:n.3978-168del | |
| XM_006720848.2:c.4134-168del | XP_006720911.1:n.4134-168del | |
| XM_011522380.1:c.4341-168del | XP_011520682.1:n.4341-168del | |
| XM_011522381.1:c.3642-168del | XP_011520683.1:n.3642-168del | |
| XM_005255124.4:c.4350-168del | XP_005255181.1:n.4350-168del | |
| XM_005255125.4:c.3978-168del | XP_005255182.1:n.3978-168del | |
| XM_006720848.3:c.4134-168del | XP_006720911.1:n.4134-168del | |
| XM_011522381.2:c.3642-168del | XP_011520683.1:n.3642-168del | |
| XM_017022944.1:c.4389-168del | XP_016878433.1:n.4389-168del | |
| NM_004380.3:c.4395-168del MANE Select | NP_004371.2:n.4395-168del |