Linked Data
dbSNP Id:
rs762785469
ExAC:
18:12337415 TTCA / T
gnomAD v2:
18-12337415-TTCA-T
gnomAD v4:
18-12337416-TTCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337422_12337424del , CM000680.2:g.12337422_12337424del | GRCh38 |
| NC_000018.9:g.12337421_12337423del , CM000680.1:g.12337421_12337423del | GRCh37 |
| NC_000018.8:g.12327421_12327423del | NCBI36 |
| NG_023361.1:g.44858_44860del , LRG_666:g.44858_44860del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1693_*1695del (AFG3L2) | ENSP00000508998.1:n.*1693_*1695del | |
| ENST00000687477.1:n.633_635del (AFG3L2) | ||
| ENST00000688199.1:c.1959_1961del (AFG3L2) | ENSP00000510237.1:p.Asp653del | |
| ENST00000691179.1:c.2022_2024del (AFG3L2) | ENSP00000509010.1:p.Asp674del | |
| ENST00000691970.1:c.*1474_*1476del (AFG3L2) | ENSP00000508440.1:n.*1474_*1476del | |
| ENST00000692497.1:c.*527_*529del (AFG3L2) | ENSP00000509870.1:n.*527_*529del | |
| ENST00000692988.1:n.1915_1917del (AFG3L2) | ||
| ENST00000269143.8:c.2097_2099del (AFG3L2) MANE Select | ENSP00000269143.2:p.Asp699del | |
| ENST00000269143.7:c.2097_2099del (AFG3L2) | ENSP00000269143.2:p.Asp699del | |
| ENST00000586691.1:c.88-6627_88-6625del (TUBB6) | ||
| NM_006796.2:c.2097_2099del , LRG_666t1:c.2097_2099del (AFG3L2) | NP_006787.2:p.Asp699del | |
| XM_011525601.1:c.1896_1898del (AFG3L2) | XP_011523903.1:p.Asp632del | |
| XM_011525601.3:c.1896_1898del (AFG3L2) | XP_011523903.1:p.Asp632del | |
| XR_002958227.1:n.451+520_451+522del | ||
| NM_006796.3:c.2097_2099del (AFG3L2) MANE Select | NP_006787.2:p.Asp699del |