Linked Data
gnomAD v4:
6-33004610-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33004618_33004619del , CM000668.2:g.33004618_33004619del | GRCh38 |
| NC_000006.11:g.32972395_32972396del , CM000668.1:g.32972395_32972396del | GRCh37 |
| NC_000006.10:g.33080373_33080374del | NCBI36 |
| NG_012007.1:g.10001_10002del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229829.7:c.*2226_*2227del MANE Select | ENSP00000229829.3:n.*2226_*2227del | |
| ENST00000229829.6:c.*2226_*2227del | ENSP00000229829.3:n.*2226_*2227del | |
| NM_002119.3:c.*2226_*2227del | NP_002110.1:n.*2226_*2227del | |
| NM_002119.4:c.*2226_*2227del MANE Select | NP_002110.1:n.*2226_*2227del |