Linked Data
ClinVar Variation Id:
440483
dbSNP Id:
rs772398324
ExAC:
15:48428929 CT / C
gnomAD v2:
15-48428929-CT-C
gnomAD v3:
15-48136732-CT-C
gnomAD v4:
15-48136732-CT-C
PubMed:
PMID:23985994
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48136733del , CM000677.2:g.48136733del | GRCh38 |
| NC_000015.9:g.48428930del , CM000677.1:g.48428930del | GRCh37 |
| NC_000015.8:g.46216222del | NCBI36 |
| NG_011500.1:g.20762del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324324.12:c.*6175del (MYEF2) MANE Select | ENSP00000316950.7:n.*6175del | |
| ENST00000341459.8:c.641del (SLC24A5) MANE Select | ENSP00000341550.3:p.Leu214ArgfsTer12 | |
| ENST00000324324.11:c.*6175del (MYEF2) | ENSP00000316950.7:n.*6175del | |
| ENST00000341459.7:c.641del (SLC24A5) | ENSP00000341550.3:p.Leu214ArgfsTer12 | |
| ENST00000449382.2:c.461del (SLC24A5) | ENSP00000389966.2:p.Leu154ArgfsTer12 | |
| ENST00000463289.1:n.401del (SLC24A5) | ||
| NM_205850.2:c.641del (SLC24A5) | NP_995322.1:p.Leu214ArgfsTer12 | |
| XM_011521458.1:c.662del (SLC24A5) | XP_011519760.1:p.Leu221ArgfsTer12 | |
| XM_005254425.4:c.*6330del (MYEF2) | XP_005254482.2:n.*6330del | |
| XM_017022079.1:c.395del (SLC24A5) | XP_016877568.1:p.Leu132ArgfsTer12 | |
| XM_017022080.1:c.395del (SLC24A5) | XP_016877569.1:p.Leu132ArgfsTer12 | |
| XM_017022285.1:c.*6330del (MYEF2) | XP_016877774.1:n.*6330del | |
| XM_017022286.1:c.*6330del (MYEF2) | XP_016877775.1:n.*6330del | |
| XM_017022287.1:c.*6330del (MYEF2) | XP_016877776.1:n.*6330del | |
| XM_017022291.1:c.*6330del (MYEF2) | XP_016877780.1:n.*6330del | |
| XM_017022292.1:c.*6330del (MYEF2) | XP_016877781.1:n.*6330del | |
| XM_024449901.1:c.302del (SLC24A5) | XP_024305669.1:p.Leu101ArgfsTer12 | |
| NM_016132.5:c.*6175del (MYEF2) MANE Select | NP_057216.3:n.*6175del | |
| NM_001301210.2:c.*6175del (MYEF2) | NP_001288139.2:n.*6175del | |
| NM_205850.3:c.641del (SLC24A5) MANE Select | NP_995322.1:p.Leu214ArgfsTer12 |