Linked Data
ClinVar Variation Id:
1542224
ClinVar RCV Id:
RCV002157604
dbSNP Id:
rs747974210
ExAC:
X:22151760 G / GA
gnomAD v2:
X-22151760-G-GA
gnomAD v3:
X-22133643-G-GA
gnomAD v4:
X-22133643-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22133652dup , CM000685.2:g.22133652dup | GRCh38 |
| NC_000023.10:g.22151769dup , CM000685.1:g.22151769dup | GRCh37 |
| NC_000023.9:g.22061690dup | NCBI36 |
| NG_007563.2:g.105849dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684745.1:n.1078+28dup | ||
| ENST00000379374.5:c.1404+28dup MANE Select | ENSP00000368682.4:n.1404+28dup | |
| ENST00000379374.4:c.1404+28dup | ENSP00000368682.4:n.1404+28dup | |
| NM_000444.5:c.1404+28dup | NP_000435.3:n.1404+28dup | |
| NM_001282754.1:c.1404+28dup | NP_001269683.1:n.1404+28dup | |
| XM_011545533.1:c.648+28dup | XP_011543835.1:n.648+28dup | |
| XM_011545534.1:c.648+28dup | XP_011543836.1:n.648+28dup | |
| XM_011545535.1:c.1404+28dup | XP_011543837.1:n.1404+28dup | |
| XM_011545536.1:c.297+28dup | XP_011543838.1:n.297+28dup | |
| XM_011545536.2:c.297+28dup | XP_011543838.1:n.297+28dup | |
| XM_017029579.1:c.648+28dup | XP_016885068.1:n.648+28dup | |
| XM_024452390.1:c.1113+28dup | XP_024308158.1:n.1113+28dup | |
| XR_001755695.1:n.2083+28dup | ||
| NM_000444.6:c.1404+28dup MANE Select | NP_000435.3:n.1404+28dup | |
| NM_001282754.2:c.1404+28dup | NP_001269683.1:n.1404+28dup |