Linked Data
dbSNP Id:
rs1295039859
gnomAD v3:
21-43068408-GCCTTGCCTAAGGGATCCATCCCAGGA-G
gnomAD v4:
21-43068408-GCCTTGCCTAAGGGATCCATCCCAGGA-G
MyVariant Identifiers:
chr21:g.43068409_43068434del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43068411_43068436del , CM000683.2:g.43068411_43068436del | GRCh38 |
| NG_008938.1:g.12497_12522del , LRG_777:g.12497_12522del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398165.8:c.316+75_316+100del MANE Select | ENSP00000381231.4:n.316+75_316+100del | |
| ENST00000352178.9:c.316+75_316+100del | ENSP00000344460.5:n.316+75_316+100del | |
| ENST00000359624.7:c.316+75_316+100del | ENSP00000352643.3:n.316+75_316+100del | |
| ENST00000398158.5:c.316+75_316+100del | ENSP00000381225.1:n.316+75_316+100del | |
| ENST00000398165.7:c.316+75_316+100del | ENSP00000381231.3:n.316+75_316+100del | |
| ENST00000441030.5:c.316+75_316+100del | ENSP00000388235.1:n.316+75_316+100del | |
| ENST00000465732.5:n.570_595del | ||
| ENST00000470912.5:n.576+75_576+100del | ||
| ENST00000488526.1:n.642_667del | ||
| NM_000071.2:c.316+75_316+100del , LRG_777t1:c.316+75_316+100del | NP_000062.1:n.316+75_316+100del | |
| NM_001178008.1:c.316+75_316+100del | NP_001171479.1:n.316+75_316+100del | |
| NM_001178009.1:c.316+75_316+100del | NP_001171480.1:n.316+75_316+100del | |
| XM_011529777.1:c.316+75_316+100del | XP_011528079.1:n.316+75_316+100del | |
| XM_011529778.1:c.316+75_316+100del | XP_011528080.1:n.316+75_316+100del | |
| XM_011529779.1:c.316+75_316+100del | XP_011528081.1:n.316+75_316+100del | |
| XM_011529781.1:c.316+75_316+100del | XP_011528083.1:n.316+75_316+100del | |
| XM_011529782.1:c.316+75_316+100del | XP_011528084.1:n.316+75_316+100del | |
| NM_001178008.2:c.316+75_316+100del | NP_001171479.1:n.316+75_316+100del | |
| NM_001178009.2:c.316+75_316+100del | NP_001171480.1:n.316+75_316+100del | |
| NM_001320298.1:c.316+75_316+100del | NP_001307227.1:n.316+75_316+100del | |
| XM_011529777.2:c.316+75_316+100del | XP_011528079.1:n.316+75_316+100del | |
| XM_017028491.2:c.316+75_316+100del | XP_016883980.1:n.316+75_316+100del | |
| XM_024452136.1:c.-378_-353del | XP_024307904.1:n.-378_-353del | |
| XM_024452137.1:c.-378_-353del | XP_024307905.1:n.-378_-353del | |
| XM_024452138.1:c.-656_-631del | XP_024307906.1:n.-656_-631del | |
| XM_024452139.1:c.-656_-631del | XP_024307907.1:n.-656_-631del | |
| XM_024452140.1:c.-656_-631del | XP_024307908.1:n.-656_-631del | |
| XR_001754916.2:n.466+75_466+100del | ||
| XR_001754917.2:n.466+75_466+100del | ||
| XR_002958634.1:n.466+75_466+100del | ||
| NM_000071.3:c.316+75_316+100del MANE Select | NP_000062.1:n.316+75_316+100del | |
| NM_001178009.3:c.316+75_316+100del | NP_001171480.1:n.316+75_316+100del | |
| NM_001178008.3:c.316+75_316+100del | NP_001171479.1:n.316+75_316+100del | |
| NM_001320298.2:c.316+75_316+100del | NP_001307227.1:n.316+75_316+100del |