Linked Data
gnomAD v4:
X-139562140-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139562143del , CM000685.2:g.139562143del | GRCh38 |
| NC_000023.10:g.138644302del , CM000685.1:g.138644302del | GRCh37 |
| NC_000023.9:g.138471968del | NCBI36 |
| NG_007994.1:g.36408del , LRG_556:g.36408del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.*72del MANE Select | ENSP00000218099.2:n.*72del | |
| ENST00000643157.1:n.1723+402del | ||
| ENST00000218099.6:c.*72del | ENSP00000218099.2:n.*72del | |
| NM_000133.3:c.*72del , LRG_556t1:c.*72del | NP_000124.1:n.*72del | |
| NM_001313913.1:c.*72del | NP_001300842.1:n.*72del | |
| XM_005262397.3:c.*72del | XP_005262454.1:n.*72del | |
| XM_005262397.4:c.*72del | XP_005262454.1:n.*72del | |
| NM_000133.4:c.*72del MANE Select | NP_000124.1:n.*72del | |
| NM_001313913.2:c.*72del | NP_001300842.1:n.*72del |