Linked Data
dbSNP Id:
rs104886258
MyVariant Identifiers:
chrX:g.107920754del (hg19)
chrX:g.107920753del (hg19)
chrX:g.108677524del (hg38)
chrX:g.108677523del (hg38)
PubMed:
PMID:8651296
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108677524del , CM000685.2:g.108677524del | GRCh38 |
| NC_000023.10:g.107920754del , CM000685.1:g.107920754del | GRCh37 |
| NC_000023.9:g.107807410del | NCBI36 |
| NG_011977.1:g.242601del | |
| NG_011977.2:g.242601del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.3833del MANE Select | ENSP00000331902.7:p.Pro1278GlnfsTer27 | |
| ENST00000361603.7:c.3815del | ENSP00000354505.2:p.Pro1272GlnfsTer27 | |
| ENST00000510690.2:n.327del | ||
| ENST00000328300.10:c.3833del | ENSP00000331902.6:p.Pro1278GlnfsTer27 | |
| ENST00000361603.6:c.3815del | ENSP00000354505.2:p.Pro1272GlnfsTer27 | |
| ENST00000489230.1:n.236del | ||
| ENST00000510690.1:n.327del | ||
| NM_000495.4:c.3815del | NP_000486.1:p.Pro1272GlnfsTer27 | |
| NM_033380.2:c.3833del | NP_203699.1:p.Pro1278GlnfsTer27 | |
| XM_005262070.2:c.3824del | XP_005262127.1:p.Pro1275GlnfsTer27 | |
| XM_006724616.2:c.3833del | XP_006724679.1:p.Pro1278GlnfsTer27 | |
| XM_011530849.1:c.3509del | XP_011529151.1:p.Pro1170GlnfsTer27 | |
| XM_011530851.1:c.1406del | XP_011529153.1:p.Pro469GlnfsTer27 | |
| XM_011530849.2:c.3848del | XP_011529151.2:p.Pro1283GlnfsTer27 | |
| XM_017029259.2:c.3839del | XP_016884748.1:p.Pro1280GlnfsTer27 | |
| XM_017029260.1:c.3830del | XP_016884749.1:p.Pro1277GlnfsTer27 | |
| XM_017029261.1:c.3848del | XP_016884750.1:p.Pro1283GlnfsTer27 | |
| XM_017029263.2:c.2168del | XP_016884752.1:p.Pro723GlnfsTer27 | |
| NM_000495.5:c.3815del | NP_000486.1:p.Pro1272GlnfsTer27 | |
| NM_033380.3:c.3833del MANE Select | NP_203699.1:p.Pro1278GlnfsTer27 |