Linked Data
dbSNP Id:
rs1390180582
gnomAD v3:
X-154380483-ACT-A
gnomAD v4:
X-154380483-ACT-A
MyVariant Identifiers:
chrX:g.154380484_154380485del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380486_154380487del , CM000685.2:g.154380486_154380487del | GRCh38 |
| NC_000023.10:g.153608846_153608847del , CM000685.1:g.153608846_153608847del | GRCh37 |
| NC_000023.9:g.153262040_153262041del | NCBI36 |
| NG_008677.1:g.11051_11052del , LRG_745:g.11051_11052del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.399+119_399+120del | ENSP00000507245.1:n.399+119_399+120del | |
| ENST00000682478.1:n.589+119_589+120del | ||
| ENST00000683576.1:n.589+119_589+120del | ||
| ENST00000683627.1:c.399+119_399+120del | ENSP00000507533.1:n.399+119_399+120del | |
| ENST00000684082.1:c.356+119_356+120del | ENSP00000508266.1:n.356+119_356+120del | |
| ENST00000684633.1:n.371+119_371+120del | ||
| ENST00000684678.1:c.395+119_395+120del | ENSP00000507059.1:n.395+119_395+120del | |
| ENST00000369842.9:c.399+119_399+120del MANE Select | ENSP00000358857.4:n.399+119_399+120del | |
| ENST00000369835.3:c.294+119_294+120del | ENSP00000358850.3:n.294+119_294+120del | |
| ENST00000369842.8:c.399+119_399+120del | ENSP00000358857.4:n.399+119_399+120del | |
| ENST00000428228.5:c.*304+119_*304+120del | ENSP00000401081.1:n.*304+119_*304+120del | |
| ENST00000468294.5:n.359+119_359+120del | ||
| ENST00000485261.1:n.589+119_589+120del | ||
| ENST00000486738.5:n.757+119_757+120del | ||
| ENST00000492448.1:n.382+119_382+120del | ||
| NM_000117.2:c.399+119_399+120del , LRG_745t1:c.399+119_399+120del | NP_000108.1:n.399+119_399+120del | |
| XM_024452349.1:c.405+119_405+120del | XP_024308117.1:n.405+119_405+120del | |
| NM_000117.3:c.399+119_399+120del MANE Select | NP_000108.1:n.399+119_399+120del |