Linked Data
dbSNP Id:
rs1235725557
gnomAD v2:
17-56780990-CCTTGTGCTA-C
gnomAD v3:
17-58703629-CCTTGTGCTA-C
gnomAD v4:
17-58703629-CCTTGTGCTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58703632_58703640del , CM000679.2:g.58703632_58703640del | GRCh38 |
| NC_000017.10:g.56780993_56781001del , CM000679.1:g.56780993_56781001del | GRCh37 |
| NC_000017.9:g.54135992_54136000del | NCBI36 |
| NG_023199.1:g.16031_16039del , LRG_314:g.16031_16039del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.354+303_354+311del | ENSP00000464056.2:n.354+303_354+311del | |
| ENST00000697678.1:n.607+303_607+311del | ||
| ENST00000697679.1:n.1779+303_1779+311del | ||
| ENST00000697680.1:c.*1569+303_*1569+311del | ENSP00000513392.1:n.*1569+303_*1569+311del | |
| ENST00000697681.1:c.*1721+303_*1721+311del | ENSP00000513393.1:n.*1721+303_*1721+311del | |
| ENST00000697683.1:c.*1569+303_*1569+311del | ENSP00000513395.1:n.*1569+303_*1569+311del | |
| ENST00000697684.1:n.765+303_765+311del | ||
| ENST00000697685.1:c.*1402+303_*1402+311del | ENSP00000513396.1:n.*1402+303_*1402+311del | |
| ENST00000697686.1:c.354+303_354+311del | ENSP00000513397.1:n.354+303_354+311del | |
| ENST00000697687.1:n.584+303_584+311del | ||
| ENST00000697688.1:n.751+303_751+311del | ||
| ENST00000697689.1:c.*1241+303_*1241+311del | ENSP00000513398.1:n.*1241+303_*1241+311del | |
| ENST00000697690.1:c.705+303_705+311del | ENSP00000513399.1:n.705+303_705+311del | |
| ENST00000697691.1:c.*677+303_*677+311del | ENSP00000513400.1:n.*677+303_*677+311del | |
| ENST00000697692.1:c.*717+303_*717+311del | ENSP00000513401.1:n.*717+303_*717+311del | |
| ENST00000697694.1:c.354+303_354+311del | ENSP00000513402.1:n.354+303_354+311del | |
| ENST00000697695.1:n.1312+303_1312+311del | ||
| ENST00000337432.9:c.705+303_705+311del MANE Select | ENSP00000336701.4:n.705+303_705+311del | |
| ENST00000337432.8:c.705+303_705+311del | ENSP00000336701.4:n.705+303_705+311del | |
| ENST00000413590.5:c.343+303_343+311del | ||
| ENST00000425173.5:c.501+303_501+311del | ENSP00000407282.1:n.501+303_501+311del | |
| ENST00000461271.5:c.354+303_354+311del | ENSP00000464056.1:n.354+303_354+311del | |
| ENST00000475762.5:c.*1408+303_*1408+311del | ENSP00000432421.1:n.*1408+303_*1408+311del | |
| ENST00000482007.5:c.*133+303_*133+311del | ENSP00000433332.1:n.*133+303_*133+311del | |
| ENST00000487525.5:c.*133+303_*133+311del | ENSP00000431637.1:n.*133+303_*133+311del | |
| ENST00000487921.5:n.617+303_617+311del | ||
| ENST00000583539.5:c.705+303_705+311del | ENSP00000463121.1:n.705+303_705+311del | |
| ENST00000584617.5:c.427+303_427+311del | ||
| NM_058216.2:c.705+303_705+311del | NP_478123.1:n.705+303_705+311del | |
| NR_103872.1:n.609+303_609+311del | ||
| XM_006722001.2:c.705+303_705+311del | XP_006722064.1:n.705+303_705+311del | |
| XM_006722002.2:c.705+303_705+311del | XP_006722065.1:n.705+303_705+311del | |
| XM_006722004.2:c.354+303_354+311del | XP_006722067.1:n.354+303_354+311del | |
| XM_006722005.2:c.354+303_354+311del | XP_006722068.1:n.354+303_354+311del | |
| XM_011525092.1:c.354+303_354+311del | XP_011523394.1:n.354+303_354+311del | |
| XM_011525093.1:c.354+303_354+311del | XP_011523395.1:n.354+303_354+311del | |
| XM_011525094.1:c.354+303_354+311del | XP_011523396.1:n.354+303_354+311del | |
| XR_934513.1:n.778+303_778+311del | ||
| XR_934514.1:n.778+303_778+311del | ||
| XM_006722001.4:c.705+303_705+311del | XP_006722064.1:n.705+303_705+311del | |
| XM_006722002.4:c.705+303_705+311del | XP_006722065.1:n.705+303_705+311del | |
| XM_006722004.3:c.354+303_354+311del | XP_006722067.1:n.354+303_354+311del | |
| XM_006722005.3:c.354+303_354+311del | XP_006722068.1:n.354+303_354+311del | |
| XM_011525092.2:c.354+303_354+311del | XP_011523394.1:n.354+303_354+311del | |
| XM_011525093.2:c.354+303_354+311del | XP_011523395.1:n.354+303_354+311del | |
| XM_011525094.2:c.354+303_354+311del | XP_011523396.1:n.354+303_354+311del | |
| XM_017024914.1:c.354+303_354+311del | XP_016880403.1:n.354+303_354+311del | |
| XM_017024915.1:c.354+303_354+311del | XP_016880404.1:n.354+303_354+311del | |
| XM_017024916.1:c.354+303_354+311del | XP_016880405.1:n.354+303_354+311del | |
| XM_017024917.1:c.354+303_354+311del | XP_016880406.1:n.354+303_354+311del | |
| XM_017024918.2:c.354+303_354+311del | XP_016880407.1:n.354+303_354+311del | |
| XM_017024919.1:c.354+303_354+311del | XP_016880408.1:n.354+303_354+311del | |
| XR_934513.3:n.1209+303_1209+311del | ||
| XR_934514.3:n.1209+303_1209+311del | ||
| NM_058216.3:c.705+303_705+311del MANE Select | NP_478123.1:n.705+303_705+311del | |
| NR_103872.2:n.580+303_580+311del |