Linked Data
ClinVar Variation Id:
2715992
ClinVar RCV Id:
RCV003545995
dbSNP Id:
rs1362329653
gnomAD v2:
15-65345428-CA-C
gnomAD v3:
15-65053090-CA-C
gnomAD v4:
15-65053090-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65053091del , CM000677.2:g.65053091del | GRCh38 |
| NC_000015.9:g.65345429del , CM000677.1:g.65345429del | GRCh37 |
| NC_000015.8:g.63132482del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334287.3:c.314del (SLC51B) MANE Select | ENSP00000335292.2:p.Gln105ArgfsTer6 | |
| ENST00000334287.2:c.314del (SLC51B) | ENSP00000335292.2:p.Gln105ArgfsTer6 | |
| NM_178859.3:c.314del (SLC51B) | NP_849190.2:p.Gln105ArgfsTer6 | |
| XM_005254159.3:c.314del (SLC51B) | XP_005254216.1:p.Gln105ArgfsTer6 | |
| XM_005254434.3:c.425+5336del (RASL12) | XP_005254491.1:n.425+5336del | |
| XM_011521661.1:c.426-1026del (RASL12) | XP_011519963.1:n.426-1026del | |
| XM_005254159.5:c.314del (SLC51B) | XP_005254216.1:p.Gln105ArgfsTer6 | |
| XM_005254434.4:c.425+5336del (RASL12) | XP_005254491.1:n.425+5336del | |
| XM_017022296.1:c.426-1026del (RASL12) | XP_016877785.1:n.426-1026del | |
| NM_178859.4:c.314del (SLC51B) MANE Select | NP_849190.2:p.Gln105ArgfsTer6 |