Linked Data
ClinVar Variation Id:
255227
ClinVar RCV Id:
RCV000249158
dbSNP Id:
rs773613916
ExAC:
X:138643659 T / TA
gnomAD v2:
X-138643659-T-TA
gnomAD v3:
X-139561500-T-TA
gnomAD v4:
X-139561500-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139561504dup , CM000685.2:g.139561504dup | GRCh38 |
| NC_000023.10:g.138643663dup , CM000685.1:g.138643663dup | GRCh37 |
| NC_000023.9:g.138471329dup | NCBI36 |
| NG_007994.1:g.35769dup , LRG_556:g.35769dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218099.7:c.839-20dup MANE Select | ENSP00000218099.2:n.839-20dup | |
| ENST00000643157.1:n.1506-20dup | ||
| ENST00000218099.6:c.839-20dup | ENSP00000218099.2:n.839-20dup | |
| ENST00000394090.2:c.725-20dup | ENSP00000377650.2:n.725-20dup | |
| NM_000133.3:c.839-20dup , LRG_556t1:c.839-20dup | NP_000124.1:n.839-20dup | |
| NM_001313913.1:c.725-20dup | NP_001300842.1:n.725-20dup | |
| XM_005262397.3:c.710-20dup | XP_005262454.1:n.710-20dup | |
| XM_005262397.4:c.710-20dup | XP_005262454.1:n.710-20dup | |
| NM_000133.4:c.839-20dup MANE Select | NP_000124.1:n.839-20dup | |
| NM_001313913.2:c.725-20dup | NP_001300842.1:n.725-20dup |