Linked Data
dbSNP Id:
rs781608016
ExAC:
X:18646471 AT / A
gnomAD v2:
X-18646471-AT-A
gnomAD v4:
X-18628351-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18628353del , CM000685.2:g.18628353del | GRCh38 |
| NC_000023.10:g.18646473del , CM000685.1:g.18646473del | GRCh37 |
| NC_000023.9:g.18556394del | NCBI36 |
| NG_008475.1:g.207749del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.2497-18del MANE Select | ENSP00000485244.1:n.2497-18del | |
| ENST00000674046.1:c.2620-18del | ENSP00000501174.1:n.2620-18del | |
| ENST00000379989.6:c.2497-18del | ENSP00000369325.3:n.2497-18del | |
| ENST00000379996.7:c.2497-18del | ENSP00000369332.3:n.2497-18del | |
| ENST00000623535.1:c.2497-18del | ENSP00000485244.1:n.2497-18del | |
| NM_001037343.1:c.2497-18del | NP_001032420.1:n.2497-18del | |
| NM_003159.2:c.2497-18del | NP_003150.1:n.2497-18del | |
| XM_011545569.1:c.2569-18del | XP_011543871.1:n.2569-18del | |
| XM_011545570.1:c.2488-18del | XP_011543872.1:n.2488-18del | |
| XR_950484.1:n.2872-18del | ||
| NM_001323289.1:c.2497-18del | NP_001310218.1:n.2497-18del | |
| NM_001323289.2:c.2497-18del MANE Select | NP_001310218.1:n.2497-18del | |
| NM_001037343.2:c.2497-18del | NP_001032420.1:n.2497-18del | |
| NM_003159.3:c.2497-18del | NP_003150.1:n.2497-18del |