Linked Data
ClinVar Variation Id:
752103
ClinVar RCV Id:
RCV000929223
dbSNP Id:
rs3216936
ExAC:
X:133379683 CT / C
gnomAD v2:
X-133379683-CT-C
gnomAD v3:
X-134245653-CT-C
gnomAD v4:
X-134245653-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134245654del , CM000685.2:g.134245654del | GRCh38 |
| NC_000023.10:g.133379684del , CM000685.1:g.133379684del | GRCh37 |
| NC_000023.9:g.133207350del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370809.5:c.854del | ENSP00000359845.4:p.Leu285ArgfsTer27 | |
| ENST00000695460.1:c.854del MANE Select | ENSP00000511932.1:p.Leu285ArgfsTer27 | |
| ENST00000370809.4:c.854del | ENSP00000359845.4:p.Leu285ArgfsTer27 | |
| ENST00000517294.5:c.854del | ENSP00000427951.1:p.Leu285ArgfsTer27 | |
| NM_001101357.1:c.854del | NP_001094827.1:p.Leu285ArgfsTer27 | |
| XM_005262409.3:c.854del | XP_005262466.1:p.Leu285ArgfsTer27 | |
| XM_005262410.3:c.854del | XP_005262467.1:p.Leu285ArgfsTer27 | |
| NM_001101357.2:c.854del | NP_001094827.1:p.Leu285ArgfsTer27 | |
| NM_001353453.1:c.854del | NP_001340382.1:p.Leu285ArgfsTer27 | |
| XM_005262410.4:c.854del | XP_005262467.1:p.Leu285ArgfsTer27 | |
| NM_001101357.3:c.854del | NP_001094827.1:p.Leu285ArgfsTer27 | |
| NM_001353453.2:c.854del | NP_001340382.1:p.Leu285ArgfsTer27 | |
| NM_001393996.1:c.854del | NP_001380925.1:p.Leu285ArgfsTer27 | |
| NM_001353453.3:c.854del MANE Select | NP_001340382.1:p.Leu285ArgfsTer27 |