Linked Data
ClinVar Variation Id:
464012
ClinVar RCV Id:
RCV000538641
dbSNP Id:
rs771972670
ExAC:
21:36171679 CAGA / C
gnomAD v2:
21-36171679-CAGA-C
gnomAD v3:
21-34799382-CAGA-C
gnomAD v4:
21-34799382-CAGA-C
MyVariant Identifiers:
chr21:g.36171680_36171682del (hg19)
chr21:g.34799384_34799386del (hg38)
chr21:g.34799383_34799385del (hg38)
ERepo:
CA10014274/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34799385_34799387del , CM000683.2:g.34799385_34799387del | GRCh38 |
| NC_000021.8:g.36171682_36171684del , CM000683.1:g.36171682_36171684del | GRCh37 |
| NC_000021.7:g.35093552_35093554del | NCBI36 |
| NG_011402.2:g.1190327_1190329del , LRG_482:g.1190327_1190329del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.883_885del MANE Select | ENSP00000501943.1:p.Ser295del | |
| ENST00000300305.7:c.883_885del | ENSP00000300305.3:p.Ser295del | |
| ENST00000344691.8:c.802_804del | ENSP00000340690.4:p.Ser268del | |
| ENST00000399240.5:c.610_612del | ENSP00000382184.1:p.Ser204del | |
| ENST00000437180.5:c.883_885del | ENSP00000409227.1:p.Ser295del | |
| ENST00000482318.5:c.*473_*475del | ENSP00000477067.1:n.*473_*475del | |
| NM_001001890.2:c.802_804del | NP_001001890.1:p.Ser268del | |
| NM_001754.4:c.883_885del , LRG_482t1:c.883_885del | NP_001745.2:p.Ser295del | |
| XM_005261068.3:c.847_849del | XP_005261125.1:p.Ser283del | |
| XM_005261069.3:c.691_693del | XP_005261126.1:p.Ser231del | |
| XM_011529766.1:c.883_885del | XP_011528068.1:p.Ser295del | |
| XM_011529767.1:c.844_846del | XP_011528069.1:p.Ser282del | |
| XM_011529768.1:c.652_654del | XP_011528070.1:p.Ser218del | |
| XR_937576.1:n.1062_1064del | ||
| XM_005261069.4:c.691_693del | XP_005261126.1:p.Ser231del | |
| XM_011529766.2:c.883_885del | XP_011528068.1:p.Ser295del | |
| XM_011529767.2:c.844_846del | XP_011528069.1:p.Ser282del | |
| XM_011529768.2:c.652_654del | XP_011528070.1:p.Ser218del | |
| XM_017028487.1:c.730_732del | XP_016883976.1:p.Ser244del | |
| XR_937576.2:n.1109_1111del | ||
| NM_001001890.3:c.802_804del | NP_001001890.1:p.Ser268del | |
| NM_001754.5:c.883_885del MANE Select | NP_001745.2:p.Ser295del |