Linked Data
dbSNP Id:
rs919545689
gnomAD v2:
9-130616494-AG-A
gnomAD v3:
9-127854215-AG-A
gnomAD v4:
9-127854215-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127854217del , CM000671.2:g.127854217del | GRCh38 |
| NC_000009.11:g.130616496del , CM000671.1:g.130616496del | GRCh37 |
| NC_000009.10:g.129656317del | NCBI36 |
| NG_009551.1:g.5553del , LRG_589:g.5553del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373203.9:c.67+73del MANE Select | ENSP00000362299.4:n.67+73del | |
| ENST00000344849.4:c.67+73del | ENSP00000341917.3:n.67+73del | |
| ENST00000373203.8:c.67+73del | ENSP00000362299.4:n.67+73del | |
| NM_000118.3:c.67+73del , LRG_589t1:c.67+73del | NP_000109.1:n.67+73del | |
| NM_001114753.2:c.67+73del , LRG_589t2:c.67+73del | NP_001108225.1:n.67+73del | |
| NM_001114753.3:c.67+73del MANE Select | NP_001108225.1:n.67+73del |