Linked Data
dbSNP Id:
rs1451722319
gnomAD v3:
9-133454477-CGGT-C
gnomAD v4:
9-133454477-CGGT-C
MyVariant Identifiers:
chr9:g.133454478_133454480del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133454480_133454482del , CM000671.2:g.133454480_133454482del | GRCh38 |
| NC_000009.10:g.135309423_135309425del | NCBI36 |
| NG_011934.2:g.45142_45144del , LRG_544:g.45142_45144del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.3110_3112del MANE Select | ENSP00000347927.2:p.Val1037del | |
| ENST00000355699.6:c.3110_3112del | ENSP00000347927.2:p.Val1037del | |
| ENST00000356589.6:c.3017_3019del | ENSP00000348997.2:p.Val1006del | |
| ENST00000371916.5:c.*579_*581del | ENSP00000360984.2:n.*579_*581del | |
| ENST00000371929.7:c.3110_3112del | ENSP00000360997.3:p.Val1037del | |
| ENST00000485925.5:n.1926_1928del | ||
| NM_139025.4:c.3110_3112del , LRG_544t1:c.3110_3112del | NP_620594.1:p.Val1037del | |
| NM_139026.4:c.3017_3019del | NP_620595.1:p.Val1006del | |
| NM_139027.4:c.3110_3112del | NP_620596.2:p.Val1037del | |
| NR_024514.2:n.1945_1947del | ||
| XM_011518174.1:c.2720_2722del | XP_011516476.1:p.Val907del | |
| XM_011518175.1:c.3110_3112del | XP_011516477.1:p.Val1037del | |
| XM_011518176.1:c.2126_2128del | XP_011516478.1:p.Val709del | |
| XM_011518177.1:c.2120_2122del | XP_011516479.1:p.Val707del | |
| XM_011518178.1:c.1775_1777del | XP_011516480.1:p.Val592del | |
| XM_011518179.1:c.1775_1777del | XP_011516481.1:p.Val592del | |
| XM_011518180.1:c.1376_1378del | XP_011516482.1:p.Val459del | |
| XM_011518176.3:c.2126_2128del | XP_011516478.1:p.Val709del | |
| XM_011518178.2:c.1775_1777del | XP_011516480.1:p.Val592del | |
| XM_017014232.1:c.3098_3100del | XP_016869721.1:p.Val1033del | |
| XM_017014233.1:c.2720_2722del | XP_016869722.1:p.Val907del | |
| XM_017014234.2:c.2120_2122del | XP_016869723.1:p.Val707del | |
| NM_139026.5:c.3017_3019del | NP_620595.1:p.Val1006del | |
| NM_139027.5:c.3110_3112del | NP_620596.2:p.Val1037del | |
| NM_139025.5:c.3110_3112del | NP_620594.1:p.Val1037del | |
| NM_139026.6:c.3017_3019del | NP_620595.1:p.Val1006del | |
| NM_139027.6:c.3110_3112del MANE Select | NP_620596.2:p.Val1037del | |
| NR_024514.3:n.1947_1949del |