Linked Data
ClinVar Variation Id:
587321
ClinVar RCV Id:
RCV000021152
dbSNP Id:
rs104886054
gnomAD v4:
X-108571813-AC-A
PubMed:
PMID:9848783
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108571818del , CM000685.2:g.108571818del | GRCh38 |
| NC_000023.10:g.107815048del , CM000685.1:g.107815048del | GRCh37 |
| NC_000023.9:g.107701704del | NCBI36 |
| NG_011977.1:g.136895del | |
| NG_011977.2:g.136895del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.446del MANE Select | ENSP00000331902.7:p.Pro149LeufsTer6 | |
| ENST00000361603.7:c.446del | ENSP00000354505.2:p.Pro149LeufsTer6 | |
| ENST00000328300.10:c.446del | ENSP00000331902.6:p.Pro149LeufsTer6 | |
| ENST00000361603.6:c.446del | ENSP00000354505.2:p.Pro149LeufsTer6 | |
| NM_000495.4:c.446del | NP_000486.1:p.Pro149LeufsTer6 | |
| NM_033380.2:c.446del | NP_203699.1:p.Pro149LeufsTer6 | |
| XM_005262070.2:c.446del | XP_005262127.1:p.Pro149LeufsTer6 | |
| XM_005262072.3:c.446del | XP_005262129.1:p.Pro149LeufsTer6 | |
| XM_006724616.2:c.446del | XP_006724679.1:p.Pro149LeufsTer6 | |
| XM_011530849.1:c.122del | XP_011529151.1:p.Pro41LeufsTer6 | |
| XM_011530850.1:c.446del | XP_011529152.1:p.Pro149LeufsTer6 | |
| XM_011530849.2:c.461del | XP_011529151.2:p.Pro154LeufsTer6 | |
| XM_017029259.2:c.461del | XP_016884748.1:p.Pro154LeufsTer6 | |
| XM_017029260.1:c.461del | XP_016884749.1:p.Pro154LeufsTer6 | |
| XM_017029261.1:c.461del | XP_016884750.1:p.Pro154LeufsTer6 | |
| XM_017029262.2:c.461del | XP_016884751.1:p.Pro154LeufsTer6 | |
| NM_000495.5:c.446del | NP_000486.1:p.Pro149LeufsTer6 | |
| NM_033380.3:c.446del MANE Select | NP_203699.1:p.Pro149LeufsTer6 |