Linked Data
dbSNP Id:
rs1351474476
gnomAD v2:
17-56290471-GA-G
gnomAD v3:
17-58213110-GA-G
gnomAD v4:
17-58213110-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58213113del , CM000679.2:g.58213113del | GRCh38 |
| NC_000017.10:g.56290474del , CM000679.1:g.56290474del | GRCh37 |
| NC_000017.9:g.53645473del | NCBI36 |
| NG_013032.1:g.11495del , LRG_687:g.11495del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313863.11:c.750-21del | ENSP00000316631.6:n.750-21del | |
| ENST00000393119.7:c.750-21del MANE Select | ENSP00000376827.2:n.750-21del | |
| ENST00000537529.7:c.321-21del | ENSP00000442096.3:n.321-21del | |
| ENST00000580127.6:c.750-21del | ENSP00000462423.2:n.750-21del | |
| ENST00000581761.6:c.750-21del | ENSP00000462129.2:n.750-21del | |
| ENST00000585134.2:c.750-21del | ENSP00000463826.2:n.750-21del | |
| ENST00000675753.2:c.*369-21del | ENSP00000502156.1:n.*369-21del | |
| ENST00000676787.1:c.621-21del | ENSP00000503999.1:n.621-21del | |
| ENST00000676975.1:c.615-21del | ENSP00000503970.1:n.615-21del | |
| ENST00000677076.1:n.2024-21del | ||
| ENST00000677111.1:c.750-21del | ENSP00000504282.1:n.750-21del | |
| ENST00000677160.1:n.2024-21del | ||
| ENST00000677416.1:n.775-21del | ||
| ENST00000677475.1:n.2680del | ||
| ENST00000677486.1:c.*94-21del | ENSP00000503852.1:n.*94-21del | |
| ENST00000677546.1:c.*94-21del | ENSP00000504043.1:n.*94-21del | |
| ENST00000677709.1:n.775-21del | ||
| ENST00000678011.1:n.775-21del | ||
| ENST00000678211.1:n.2799-21del | ||
| ENST00000678432.1:c.*369-21del | ENSP00000504452.1:n.*369-21del | |
| ENST00000678463.1:c.750-21del | ENSP00000502984.1:n.750-21del | |
| ENST00000678481.1:n.551-21del | ||
| ENST00000678568.1:c.*157-21del | ENSP00000504754.1:n.*157-21del | |
| ENST00000678641.1:c.*94-21del | ENSP00000503159.1:n.*94-21del | |
| ENST00000678928.1:n.2377-21del | ||
| ENST00000679081.1:n.2766-21del | ||
| ENST00000313863.10:c.750-21del | ENSP00000316631.6:n.750-21del | |
| ENST00000393119.6:c.750-21del | ENSP00000376827.2:n.750-21del | |
| ENST00000393120.6:c.*157-21del | ENSP00000376828.2:n.*157-21del | |
| ENST00000537529.6:c.720-21del | ENSP00000442096.2:n.720-21del | |
| ENST00000577824.5:c.227-21del | ||
| ENST00000581761.5:c.*157-21del | ENSP00000462129.1:n.*157-21del | |
| NM_001165927.1:c.720-21del , LRG_687t2:c.720-21del | NP_001159399.1:n.720-21del | |
| NM_017777.3:c.750-21del , LRG_687t1:c.750-21del | NP_060247.2:n.750-21del | |
| XM_005257483.3:c.750-21del | XP_005257540.1:n.750-21del | |
| XM_005257485.3:c.321-21del | XP_005257542.1:n.321-21del | |
| XM_005257486.3:c.141-21del | XP_005257543.1:n.141-21del | |
| XM_006721965.2:c.141-21del | XP_006722028.1:n.141-21del | |
| XM_011524957.1:c.759-21del | XP_011523259.1:n.759-21del | |
| XM_011524958.1:c.759-21del | XP_011523260.1:n.759-21del | |
| XM_011524959.1:c.759-21del | XP_011523261.1:n.759-21del | |
| XM_011524960.1:c.759-21del | XP_011523262.1:n.759-21del | |
| XR_934494.1:n.807-21del | ||
| NM_001321268.1:c.141-21del | NP_001308197.1:n.141-21del | |
| NM_001321269.1:c.750-21del | NP_001308198.1:n.750-21del | |
| NM_001330397.1:c.750-21del | NP_001317326.1:n.750-21del | |
| XM_005257485.4:c.321-21del | XP_005257542.1:n.321-21del | |
| XM_006721965.3:c.141-21del | XP_006722028.1:n.141-21del | |
| XM_011524957.2:c.759-21del | XP_011523259.1:n.759-21del | |
| XM_011524958.2:c.759-21del | XP_011523260.1:n.759-21del | |
| XM_011524959.2:c.759-21del | XP_011523261.1:n.759-21del | |
| XM_011524960.2:c.759-21del | XP_011523262.1:n.759-21del | |
| XM_017024804.2:c.750-21del | XP_016880293.1:n.750-21del | |
| XM_017024805.1:c.321-21del | XP_016880294.1:n.321-21del | |
| XR_002958042.1:n.804-21del | ||
| NM_001321268.2:c.141-21del | NP_001308197.1:n.141-21del | |
| NM_001321269.2:c.750-21del | NP_001308198.1:n.750-21del | |
| NM_001330397.2:c.750-21del | NP_001317326.1:n.750-21del | |
| NM_017777.4:c.750-21del MANE Select | NP_060247.2:n.750-21del |