Linked Data
dbSNP Id:
rs745539628
ExAC:
20:44576590 TC / T
gnomAD v2:
20-44576590-TC-T
gnomAD v3:
20-45947951-TC-T
gnomAD v4:
20-45947951-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45947954del , CM000682.2:g.45947954del | GRCh38 |
| NC_000020.10:g.44576593del , CM000682.1:g.44576593del | GRCh37 |
| NC_000020.9:g.44010000del | NCBI36 |
| NG_029772.1:g.29243del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372409.8:c.*199del MANE Select | ENSP00000361486.3:n.*199del | |
| ENST00000372409.7:c.*199del | ENSP00000361486.3:n.*199del | |
| ENST00000479348.2:c.1255del | ||
| NM_022104.3:c.*199del | NP_071387.1:n.*199del | |
| XM_011528980.1:c.*199del | XP_011527282.1:n.*199del | |
| XM_011528981.1:c.*199del | XP_011527283.1:n.*199del | |
| XM_011528982.1:c.*199del | XP_011527284.1:n.*199del | |
| XM_011528980.3:c.*199del | XP_011527282.1:n.*199del | |
| XM_011528981.3:c.*199del | XP_011527283.1:n.*199del | |
| XM_017028013.2:c.*199del | XP_016883502.1:n.*199del | |
| XM_017028014.2:c.*199del | XP_016883503.1:n.*199del | |
| NM_022104.4:c.*199del MANE Select | NP_071387.1:n.*199del |