Linked Data
ClinVar Variation Id:
397579
ClinVar RCV Id:
RCV000449518
dbSNP Id:
rs1060499694
gnomAD v4:
X-108601888-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108601891del , CM000685.2:g.108601891del | GRCh38 |
| NC_000023.10:g.107845121del , CM000685.1:g.107845121del | GRCh37 |
| NC_000023.9:g.107731777del | NCBI36 |
| NG_011977.1:g.166968del | |
| NG_011977.2:g.166968del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.2048del MANE Select | ENSP00000331902.7:p.Pro683LeufsTer? | |
| ENST00000361603.7:c.2048del | ENSP00000354505.2:p.Pro683LeufsTer? | |
| ENST00000328300.10:c.2048del | ENSP00000331902.6:p.Pro683LeufsTer? | |
| ENST00000361603.6:c.2048del | ENSP00000354505.2:p.Pro683LeufsTer? | |
| ENST00000483338.1:n.1504del | ||
| NM_000495.4:c.2048del | NP_000486.1:p.Pro683LeufsTer? | |
| NM_033380.2:c.2048del | NP_203699.1:p.Pro683LeufsTer? | |
| XM_005262070.2:c.2048del | XP_005262127.1:p.Pro683LeufsTer? | |
| XM_005262072.3:c.2048del | XP_005262129.1:p.Pro683LeufsTer? | |
| XM_006724616.2:c.2048del | XP_006724679.1:p.Pro683LeufsTer? | |
| XM_011530849.1:c.1724del | XP_011529151.1:p.Pro575LeufsTer? | |
| XM_011530850.1:c.2048del | XP_011529152.1:p.Pro683LeufsTer? | |
| XM_011530849.2:c.2063del | XP_011529151.2:p.Pro688LeufsTer? | |
| XM_017029259.2:c.2063del | XP_016884748.1:p.Pro688LeufsTer? | |
| XM_017029260.1:c.2063del | XP_016884749.1:p.Pro688LeufsTer? | |
| XM_017029261.1:c.2063del | XP_016884750.1:p.Pro688LeufsTer? | |
| XM_017029262.2:c.2063del | XP_016884751.1:p.Pro688LeufsTer? | |
| XM_017029263.2:c.383del | XP_016884752.1:p.Pro128LeufsTer? | |
| NM_000495.5:c.2048del | NP_000486.1:p.Pro683LeufsTer? | |
| NM_033380.3:c.2048del MANE Select | NP_203699.1:p.Pro683LeufsTer? |