Linked Data
dbSNP Id:
rs1557247093
gnomAD v2:
X-77369202-AGTAACTTCATTCTGTTTGTT-A
gnomAD v4:
X-78113705-AGTAACTTCATTCTGTTTGTT-A
MyVariant Identifiers:
chrX:g.77369203_77369222del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78113708_78113727del , CM000685.2:g.78113708_78113727del | GRCh38 |
| NC_000023.10:g.77369205_77369224del , CM000685.1:g.77369205_77369224del | GRCh37 |
| NC_000023.9:g.77255861_77255880del | NCBI36 |
| NG_008862.1:g.14540_14559del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.117-36_117-17del MANE Select | ENSP00000362413.4:n.117-36_117-17del | |
| ENST00000644362.1:c.33-36_33-17del | ENSP00000496140.1:n.33-36_33-17del | |
| ENST00000373316.4:c.117-36_117-17del | ENSP00000362413.4:n.117-36_117-17del | |
| ENST00000477335.5:n.253-36_253-17del | ||
| ENST00000491291.1:n.109-36_109-17del | ||
| NM_000291.3:c.117-36_117-17del | NP_000282.1:n.117-36_117-17del | |
| NM_000291.4:c.117-36_117-17del MANE Select | NP_000282.1:n.117-36_117-17del |