Linked Data
ClinVar Variation Id:
1785153
ClinVar RCV Id:
RCV002421902
dbSNP Id:
rs1453204303
gnomAD v2:
11-68704003-GGCTGCA-G
gnomAD v4:
11-68936535-GGCTGCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936538_68936543del , CM000673.2:g.68936538_68936543del | GRCh38 |
| NC_000011.9:g.68704006_68704011del , CM000673.1:g.68704006_68704011del | GRCh37 |
| NC_000011.8:g.68460582_68460587del | NCBI36 |
| NG_007976.1:g.37688_37693del , LRG_250:g.37688_37693del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2058_2063del MANE Select | ENSP00000255078.4:p.Ala687_Ala688del | |
| ENST00000674675.1:c.302_307del | ||
| ENST00000674878.1:c.302_307del | ||
| ENST00000674955.1:c.*775_*780del | ENSP00000502463.1:n.*775_*780del | |
| ENST00000675118.1:c.1546_1551del | ||
| ENST00000675389.1:n.333_338del | ||
| ENST00000675615.1:c.2058_2063del | ENSP00000502413.1:p.Ala687_Ala688del | |
| ENST00000675648.1:n.1433_1438del | ||
| ENST00000675916.1:c.302_307del | ||
| ENST00000676173.1:n.2803_2808del | ||
| ENST00000676182.1:c.489_494del | ||
| ENST00000676228.1:c.*1381_*1386del | ENSP00000502375.1:n.*1381_*1386del | |
| ENST00000255078.7:c.2058_2063del | ENSP00000255078.3:p.Ala687_Ala688del | |
| ENST00000539064.5:n.1817_1822del | ||
| ENST00000543739.5:n.1051_1056del | ||
| NM_002180.2:c.2058_2063del , LRG_250t1:c.2058_2063del | NP_002171.2:p.Ala687_Ala688del | |
| XM_005273974.2:c.1047_1052del | XP_005274031.1:p.Ala350_Ala351del | |
| XM_005273975.2:c.930_935del | XP_005274032.1:p.Ala311_Ala312del | |
| XM_011544994.1:c.825_830del | XP_011543296.1:p.Ala276_Ala277del | |
| XR_949903.1:n.2160_2165del | ||
| XM_005273975.3:c.930_935del | XP_005274032.1:p.Ala311_Ala312del | |
| XM_017017669.2:c.1047_1052del | XP_016873158.1:p.Ala350_Ala351del | |
| XM_017017670.2:c.1047_1052del | XP_016873159.1:p.Ala350_Ala351del | |
| XR_949903.3:n.2156_2161del | ||
| NM_002180.3:c.2058_2063del MANE Select | NP_002171.2:p.Ala687_Ala688del |