Linked Data
ClinVar Variation Id:
2072722
ClinVar RCV Id:
RCV002967321
dbSNP Id:
rs782568024
ExAC:
8:145106383 CG / C
gnomAD v2:
8-145106383-CG-C
gnomAD v3:
8-144051482-CG-C
gnomAD v4:
8-144051482-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144051491del , CM000670.2:g.144051491del | GRCh38 |
| NC_000008.10:g.145106392del , CM000670.1:g.145106392del | GRCh37 |
| NC_000008.9:g.145178380del | NCBI36 |
| NG_032671.1:g.14199del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686861.1:n.714del (SMPD5) | ||
| ENST00000687871.1:n.962del (SMPD5) | ||
| ENST00000689734.1:n.962del (SMPD5) | ||
| ENST00000691496.1:n.799del (SMPD5) | ||
| ENST00000693651.1:n.963del (SMPD5) | ||
| ENST00000528912.1:n.1359del (SMPD5) | ||
| ENST00000618853.5:c.3721-11del (OPLAH) MANE Select | ENSP00000480476.1:n.3721-11del | |
| ENST00000618853.4:c.3721-11del (OPLAH) | ENSP00000480476.1:n.3721-11del | |
| NM_017570.4:c.3721-11del (OPLAH) | NP_060040.1:n.3721-11del | |
| XM_011516960.1:c.4009-11del (OPLAH) | XP_011515262.1:n.4009-11del | |
| NM_017570.5:c.3721-11del (OPLAH) MANE Select | NP_060040.1:n.3721-11del |