Linked Data
dbSNP Id:
rs1565008211
gnomAD v2:
11-8149748-CA-C
gnomAD v4:
11-8128201-CA-C
MyVariant Identifiers:
chr11:g.8149749del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8128202del , CM000673.2:g.8128202del | GRCh38 |
| NC_000011.9:g.8149749del , CM000673.1:g.8149749del | GRCh37 |
| NC_000011.8:g.8106325del | NCBI36 |
| NG_030416.1:g.45842del | |
| NG_030416.2:g.45842del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699457.1:n.271del | ||
| ENST00000309737.11:c.522-1395del MANE Select | ENSP00000308820.6:n.522-1395del | |
| ENST00000309737.10:c.522-1395del | ENSP00000308820.6:n.522-1395del | |
| ENST00000335425.7:c.125-17065del | ENSP00000333988.7:n.125-17065del | |
| ENST00000343202.8:c.522-1398del | ENSP00000344904.4:n.522-1398del | |
| ENST00000425599.6:c.427+10070del | ENSP00000395320.2:n.427+10070del | |
| ENST00000524799.5:n.383-1398del | ||
| ENST00000526962.1:c.125-1398del | ENSP00000434787.1:n.125-1398del | |
| ENST00000528463.5:c.*439-1395del | ENSP00000435244.1:n.*439-1395del | |
| ENST00000530060.5:n.737+17del | ||
| ENST00000531450.1:c.522-1311del | ENSP00000431658.1:n.522-1311del | |
| NM_001135109.2:c.125-17065del | NP_001128581.1:n.125-17065del | |
| NM_001206671.2:c.522-1395del | NP_001193600.1:n.522-1395del | |
| NM_001206672.2:c.427+10070del | NP_001193601.1:n.427+10070del | |
| NM_024557.4:c.522-1398del | NP_078833.3:n.522-1398del | |
| NR_045405.1:n.625-1395del | ||
| XM_006718317.2:c.522-1311del | XP_006718380.1:n.522-1311del | |
| XM_006718318.2:c.522-1398del | XP_006718381.1:n.522-1398del | |
| XR_428848.2:n.616-1311del | ||
| XR_428851.2:n.616-1311del | ||
| XR_930896.1:n.616-1311del | ||
| XR_930897.1:n.616-1311del | ||
| XR_930898.1:n.616-1311del | ||
| XR_930899.1:n.616-1311del | ||
| XR_930900.1:n.616-1311del | ||
| XR_930901.1:n.616-1395del | ||
| XR_930902.1:n.616-1398del | ||
| XR_930903.1:n.617-1395del | ||
| XR_930904.1:n.674+17del | ||
| XR_930905.1:n.737+17del | ||
| XR_930906.1:n.751+17del | ||
| NM_001135109.3:c.125-17065del | NP_001128581.1:n.125-17065del | |
| NM_001206671.3:c.522-1395del | NP_001193600.1:n.522-1395del | |
| NM_001206672.3:c.427+10070del | NP_001193601.1:n.427+10070del | |
| NM_001346690.1:c.38+17del | NP_001333619.1:n.38+17del | |
| NM_001346691.1:c.521+9176del | NP_001333620.1:n.521+9176del | |
| NM_001346692.1:c.375-1398del | NP_001333621.1:n.375-1398del | |
| NM_001346693.1:c.375-1311del | NP_001333622.1:n.375-1311del | |
| NM_001346694.1:c.375-1395del | NP_001333623.1:n.375-1395del | |
| NM_024557.5:c.522-1398del | NP_078833.3:n.522-1398del | |
| NR_144484.1:n.533-1398del | ||
| NR_144485.1:n.676-1398del | ||
| NR_144497.1:n.230-1398del | ||
| XM_006718317.4:c.522-1311del | XP_006718380.1:n.522-1311del | |
| XM_006718318.4:c.522-1398del | XP_006718381.1:n.522-1398del | |
| XM_017018287.2:c.522-1311del | XP_016873776.1:n.522-1311del | |
| XM_024448684.1:c.375-1398del | XP_024304452.1:n.375-1398del | |
| XM_024448685.1:c.*39+17del | XP_024304453.1:n.*39+17del | |
| XM_024448686.1:c.*39+17del | XP_024304454.1:n.*39+17del | |
| XR_001747957.2:n.554-1398del | ||
| XR_001747959.2:n.2294+17del | ||
| XR_002957192.1:n.554-1398del | ||
| XR_002957193.1:n.554-1398del | ||
| XR_002957194.1:n.622-1311del | ||
| XR_002957195.1:n.553+9176del | ||
| XR_428848.4:n.554-1311del | ||
| XR_428851.4:n.554-1311del | ||
| XR_930896.3:n.554-1311del | ||
| XR_930897.3:n.554-1311del | ||
| XR_930898.3:n.554-1311del | ||
| XR_930900.3:n.554-1311del | ||
| XR_930901.3:n.554-1395del | ||
| XR_930903.3:n.622-1395del | ||
| XR_930904.3:n.2294+17del | ||
| XR_930905.3:n.2357+17del | ||
| NM_001206671.4:c.522-1395del MANE Select | NP_001193600.1:n.522-1395del | |
| NM_001135109.4:c.125-17065del | NP_001128581.1:n.125-17065del | |
| NM_001206672.4:c.427+10070del | NP_001193601.1:n.427+10070del | |
| NM_001346690.2:c.38+17del | NP_001333619.1:n.38+17del | |
| NM_001346691.2:c.521+9176del | NP_001333620.1:n.521+9176del | |
| NM_001346692.2:c.375-1398del | NP_001333621.1:n.375-1398del | |
| NM_001346693.2:c.375-1311del | NP_001333622.1:n.375-1311del | |
| NM_001346694.2:c.375-1395del | NP_001333623.1:n.375-1395del | |
| NM_024557.6:c.522-1398del | NP_078833.3:n.522-1398del | |
| NR_144484.2:n.464-1398del | ||
| NR_144485.2:n.607-1398del | ||
| NR_144497.2:n.161-1398del |