Linked Data
ClinVar Variation Id:
1073730
ClinVar RCV Id:
RCV001386805
dbSNP Id:
rs2138056689
gnomAD v4:
13-40807335-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40807339del , CM000675.2:g.40807339del | GRCh38 |
| NC_000013.10:g.41381475del , CM000675.1:g.41381475del | GRCh37 |
| NC_000013.9:g.40279475del | NCBI36 |
| NG_012248.1:g.22929del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707033.1:c.498del (SLC25A15) | ENSP00000516711.1:p.Leu167TrpfsTer27 | |
| ENST00000338625.9:c.498del (SLC25A15) MANE Select | ENSP00000342267.4:p.Leu167TrpfsTer27 | |
| ENST00000338625.8:c.498del (SLC25A15) | ENSP00000342267.4:p.Leu167TrpfsTer27 | |
| ENST00000417731.5:c.360del (SLC25A15) | ENSP00000415826.1:p.Leu121TrpfsTer? | |
| ENST00000470509.1:c.*181del (SLC25A15) | ENSP00000431429.1:n.*181del | |
| ENST00000478827.1:n.985del (SLC25A15) | ||
| NM_014252.3:c.498del (SLC25A15) | NP_055067.1:p.Leu167TrpfsTer27 | |
| NR_038258.1:n.623-6612del (TPTE2P5) | ||
| NR_038259.1:n.452-6612del (TPTE2P5) | ||
| NM_014252.4:c.498del (SLC25A15) MANE Select | NP_055067.1:p.Leu167TrpfsTer27 |