Linked Data
dbSNP Id:
rs756757247
ExAC:
X:38535150 GT / G
gnomAD v2:
X-38535150-GT-G
gnomAD v4:
X-38675896-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675897del , CM000685.2:g.38675897del | GRCh38 |
| NC_000023.10:g.38535151del , CM000685.1:g.38535151del | GRCh37 |
| NC_000023.9:g.38420095del | NCBI36 |
| NG_009160.1:g.119421del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.597+37del MANE Select | ENSP00000367743.2:n.597+37del | |
| ENST00000286824.6:c.648+37del | ENSP00000286824.6:n.648+37del | |
| ENST00000378482.6:c.597+37del | ENSP00000367743.2:n.597+37del | |
| ENST00000419600.3:n.541+37del | ||
| ENST00000465127.1:c.687+37del | ENSP00000417050.1:n.687+37del | |
| ENST00000471410.5:c.*623+37del | ENSP00000419290.1:n.*623+37del | |
| ENST00000475216.5:c.*590+37del | ENSP00000418586.1:n.*590+37del | |
| NM_004615.3:c.597+37del | NP_004606.2:n.597+37del | |
| NM_004615.4:c.597+37del MANE Select | NP_004606.2:n.597+37del |