Linked Data
gnomAD v4:
4-24800135-TGGCCTGCTGCGTGGTGGGCGTGTGCG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800140_24800165del , CM000666.2:g.24800140_24800165del | GRCh38 |
| NC_000004.11:g.24801762_24801787del , CM000666.1:g.24801762_24801787del | GRCh37 |
| NC_000004.10:g.24410860_24410885del | NCBI36 |
| NG_012213.1:g.9678_9703del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.619_644del MANE Select | ENSP00000371554.3:p.Cys207ArgfsTer? | |
| ENST00000382120.3:c.619_644del | ENSP00000371554.3:p.Cys207ArgfsTer? | |
| NM_003102.2:c.619_644del | NP_003093.2:p.Cys207ArgfsTer? | |
| XR_427488.1:n.809_834del | ||
| NM_003102.3:c.619_644del | NP_003093.2:p.Cys207ArgfsTer? | |
| NM_003102.4:c.619_644del MANE Select | NP_003093.2:p.Cys207ArgfsTer? |