Linked Data
gnomAD v4:
11-6318977-CGCAAGCAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6318979_6318986del , CM000673.2:g.6318979_6318986del | GRCh38 |
| NC_000011.9:g.6340209_6340216del , CM000673.1:g.6340209_6340216del | GRCh37 |
| NC_000011.8:g.6296785_6296792del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.*178_*185del MANE Select | ENSP00000307292.3:n.*178_*185del | |
| ENST00000303927.3:c.*178_*185del | ENSP00000307292.3:n.*178_*185del | |
| ENST00000532354.1:n.986_993del | ||
| NM_145040.2:c.*178_*185del | NP_659477.2:n.*178_*185del | |
| XR_930997.1:n.720+759_720+766del | ||
| NM_145040.3:c.*178_*185del MANE Select | NP_659477.2:n.*178_*185del |