Linked Data
dbSNP Id:
rs767149540
ExAC:
18:12337586 CA / C
gnomAD v2:
18-12337586-CA-C
gnomAD v4:
18-12337587-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337591del , CM000680.2:g.12337591del | GRCh38 |
| NC_000018.9:g.12337590del , CM000680.1:g.12337590del | GRCh37 |
| NC_000018.8:g.12327590del | NCBI36 |
| NG_023361.1:g.44689del , LRG_666:g.44689del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1577-53del (AFG3L2) | ENSP00000508998.1:n.*1577-53del | |
| ENST00000687477.1:n.517-53del (AFG3L2) | ||
| ENST00000688199.1:c.1843-53del (AFG3L2) | ENSP00000510237.1:n.1843-53del | |
| ENST00000691179.1:c.1906-53del (AFG3L2) | ENSP00000509010.1:n.1906-53del | |
| ENST00000691970.1:c.*1358-53del (AFG3L2) | ENSP00000508440.1:n.*1358-53del | |
| ENST00000692497.1:c.*411-53del (AFG3L2) | ENSP00000509870.1:n.*411-53del | |
| ENST00000692988.1:n.1799-53del (AFG3L2) | ||
| ENST00000269143.8:c.1981-53del (AFG3L2) MANE Select | ENSP00000269143.2:n.1981-53del | |
| ENST00000269143.7:c.1981-53del (AFG3L2) | ENSP00000269143.2:n.1981-53del | |
| ENST00000586691.1:c.88-6458del (TUBB6) | ||
| NM_006796.2:c.1981-53del , LRG_666t1:c.1981-53del (AFG3L2) | NP_006787.2:n.1981-53del | |
| XM_011525601.1:c.1780-53del (AFG3L2) | XP_011523903.1:n.1780-53del | |
| XM_011525601.3:c.1780-53del (AFG3L2) | XP_011523903.1:n.1780-53del | |
| XR_002958227.1:n.451+689del | ||
| NM_006796.3:c.1981-53del (AFG3L2) MANE Select | NP_006787.2:n.1981-53del |