Linked Data
dbSNP Id:
rs1477523424
gnomAD v2:
1-183171014-AC-A
gnomAD v3:
1-183201879-AC-A
gnomAD v4:
1-183201879-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183201880del , CM000663.2:g.183201880del | GRCh38 |
| NC_000001.10:g.183171015del , CM000663.1:g.183171015del | GRCh37 |
| NC_000001.9:g.181437638del | NCBI36 |
| NG_007079.2:g.20617del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264144.5:c.80-6001del MANE Select | ENSP00000264144.4:n.80-6001del | |
| ENST00000264144.4:c.80-6001del | ENSP00000264144.4:n.80-6001del | |
| ENST00000493293.5:c.80-6001del | ENSP00000432063.1:n.80-6001del | |
| NM_005562.2:c.80-6001del | NP_005553.2:n.80-6001del | |
| NM_018891.2:c.80-6001del | NP_061486.2:n.80-6001del | |
| XM_017001273.2:c.80-6001del | XP_016856762.1:n.80-6001del | |
| NM_005562.3:c.80-6001del MANE Select | NP_005553.2:n.80-6001del | |
| NM_018891.3:c.80-6001del | NP_061486.2:n.80-6001del |