Linked Data
dbSNP Id:
rs1556885455
gnomAD v2:
X-53405209-AG-A
gnomAD v3:
X-53378288-AG-A
gnomAD v4:
X-53378288-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53378289del , CM000685.2:g.53378289del | GRCh38 |
| NC_000023.10:g.53405210del , CM000685.1:g.53405210del | GRCh37 |
| NC_000023.9:g.53421935del | NCBI36 |
| NG_006988.2:g.49382del , LRG_773:g.49382del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.*1814del MANE Select | ENSP00000323421.3:n.*1814del | |
| ENST00000675504.1:c.*1814del | ENSP00000502524.1:n.*1814del | |
| ENST00000322213.8:c.*1814del | ENSP00000323421.3:n.*1814del | |
| ENST00000375340.10:c.*1814del | ENSP00000364489.7:n.*1814del | |
| NM_001281463.1:c.*1814del , LRG_773t1:c.*1814del | NP_001268392.1:n.*1814del | |
| NM_006306.3:c.*1814del , LRG_773t2:c.*1814del | NP_006297.2:n.*1814del | |
| NM_006306.4:c.*1814del MANE Select | NP_006297.2:n.*1814del |