Linked Data
dbSNP Id:
rs1339012015
gnomAD v3:
X-154531460-TATAGC-T
gnomAD v4:
X-154531460-TATAGC-T
MyVariant Identifiers:
chrX:g.154531461_154531465del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154531462_154531466del , CM000685.2:g.154531462_154531466del | GRCh38 |
| NC_000023.10:g.153759677_153759681del , CM000685.1:g.153759677_153759681del | GRCh37 |
| NC_000023.9:g.153412871_153412875del | NCBI36 |
| NG_009015.2:g.21108_21112del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393564.7:c.*535_*539del | ENSP00000377194.2:n.*535_*539del | |
| ENST00000439227.6:c.*535_*539del | ENSP00000395599.2:n.*535_*539del | |
| ENST00000696420.1:c.1457+723_1457+727del | ENSP00000512615.1:n.1457+723_1457+727del | |
| ENST00000696421.1:c.1457+723_1457+727del | ENSP00000512616.1:n.1457+723_1457+727del | |
| ENST00000696422.1:c.1946_1950del | ||
| ENST00000696423.1:c.1949_1953del | ||
| ENST00000696424.1:c.1935_1939del | ENSP00000512619.1:n.1935_1939del | |
| ENST00000696425.1:c.*996_*1000del | ENSP00000512620.1:n.*996_*1000del | |
| ENST00000696426.1:c.*1543_*1547del | ENSP00000512621.1:n.*1543_*1547del | |
| ENST00000696427.1:c.*1043_*1047del | ENSP00000512622.1:n.*1043_*1047del | |
| ENST00000696428.1:c.*1925_*1929del | ENSP00000512623.1:n.*1925_*1929del | |
| ENST00000696429.1:c.*535_*539del | ENSP00000512624.1:n.*535_*539del | |
| ENST00000696430.1:c.*535_*539del | ENSP00000512625.1:n.*535_*539del | |
| ENST00000393562.10:c.*535_*539del MANE Select | ENSP00000377192.3:n.*535_*539del | |
| ENST00000393562.6:c.*535_*539del | ENSP00000377192.2:n.*535_*539del | |
| ENST00000621232.4:c.*535_*539del | ENSP00000483686.1:n.*535_*539del | |
| NM_000402.4:c.*535_*539del | NP_000393.4:n.*535_*539del | |
| NM_001042351.2:c.*535_*539del | NP_001035810.1:n.*535_*539del | |
| XM_005274657.2:c.*535_*539del | XP_005274714.1:n.*535_*539del | |
| XM_005274658.2:c.*535_*539del | XP_005274715.1:n.*535_*539del | |
| NM_001360016.2:c.*535_*539del MANE Select | NP_001346945.1:n.*535_*539del | |
| NM_001042351.3:c.*535_*539del | NP_001035810.1:n.*535_*539del |