Linked Data
ClinVar Variation Id:
60558
ClinVar RCV Id:
RCV000054446
dbSNP Id:
rs886037642
gnomAD v2:
15-48427160-T-TATTA
gnomAD v3:
15-48134963-T-TATTA
gnomAD v4:
15-48134963-T-TATTA
MyVariant Identifiers:
chr15:g.48427162_48427163insTAAT (hg19)
chr15:g.48427160_48427161insATTA (hg19)
chr15:g.48134965_48134966insTAAT (hg38)
PubMed:
PMID:23010199
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48134965_48134966insTAAT , CM000677.2:g.48134965_48134966insTAAT | GRCh38 |
| NC_000015.9:g.48427162_48427163insTAAT , CM000677.1:g.48427162_48427163insTAAT | GRCh37 |
| NC_000015.8:g.46214454_46214455insTAAT | NCBI36 |
| NG_011500.1:g.18994_18995insTAAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324324.12:c.*7944_*7945insTAAT (MYEF2) MANE Select | ENSP00000316950.7:n.*7944_*7945insTAAT | |
| ENST00000341459.8:c.571_572insTAAT (SLC24A5) MANE Select | ENSP00000341550.3:p.Tyr191LeufsTer3 | |
| ENST00000324324.11:c.*7944_*7945insTAAT (MYEF2) | ENSP00000316950.7:n.*7944_*7945insTAAT | |
| ENST00000341459.7:c.571_572insTAAT (SLC24A5) | ENSP00000341550.3:p.Tyr191LeufsTer3 | |
| ENST00000449382.2:c.391_392insTAAT (SLC24A5) | ENSP00000389966.2:p.Tyr131LeufsTer3 | |
| ENST00000463289.1:n.331_332insTAAT (SLC24A5) | ||
| NM_205850.2:c.571_572insTAAT (SLC24A5) | NP_995322.1:p.Tyr191LeufsTer3 | |
| XM_011521458.1:c.592_593insTAAT (SLC24A5) | XP_011519760.1:p.Tyr198LeufsTer3 | |
| XM_005254425.4:c.*8099_*8100insTAAT (MYEF2) | XP_005254482.2:n.*8099_*8100insTAAT | |
| XM_017022079.1:c.325_326insTAAT (SLC24A5) | XP_016877568.1:p.Tyr109LeufsTer3 | |
| XM_017022080.1:c.325_326insTAAT (SLC24A5) | XP_016877569.1:p.Tyr109LeufsTer3 | |
| XM_017022285.1:c.*8099_*8100insTAAT (MYEF2) | XP_016877774.1:n.*8099_*8100insTAAT | |
| XM_017022286.1:c.*8099_*8100insTAAT (MYEF2) | XP_016877775.1:n.*8099_*8100insTAAT | |
| XM_017022287.1:c.*8099_*8100insTAAT (MYEF2) | XP_016877776.1:n.*8099_*8100insTAAT | |
| XM_017022291.1:c.*8099_*8100insTAAT (MYEF2) | XP_016877780.1:n.*8099_*8100insTAAT | |
| XM_017022292.1:c.*8099_*8100insTAAT (MYEF2) | XP_016877781.1:n.*8099_*8100insTAAT | |
| XM_024449901.1:c.232_233insTAAT (SLC24A5) | XP_024305669.1:p.Tyr78LeufsTer3 | |
| NM_016132.5:c.*7944_*7945insTAAT (MYEF2) MANE Select | NP_057216.3:n.*7944_*7945insTAAT | |
| NM_001301210.2:c.*7944_*7945insTAAT (MYEF2) | NP_001288139.2:n.*7944_*7945insTAAT | |
| NM_205850.3:c.571_572insTAAT (SLC24A5) MANE Select | NP_995322.1:p.Tyr191LeufsTer3 |