Linked Data
ClinVar Variation Id:
179133
ClinVar RCV Id:
RCV000155918
dbSNP Id:
rs730880352
MyVariant Identifiers:
chrX:g.153609442_153609446dupTGGGC (hg19)
chrX:g.154381082_154381086dupTGGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154381082_154381086dup , CM000685.2:g.154381082_154381086dup | GRCh38 |
| NC_000023.10:g.153609442_153609446dup , CM000685.1:g.153609442_153609446dup | GRCh37 |
| NC_000023.9:g.153262636_153262640dup | NCBI36 |
| NG_008677.1:g.11647_11651dup , LRG_745:g.11647_11651dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369842.9:c.650_654dup MANE Select | ENSP00000358857.4:p.Gln219TrpfsTer20 | |
| ENST00000369835.3:c.545_549dup | ENSP00000358850.3:p.Gln184TrpfsTer20 | |
| ENST00000369842.8:c.650_654dup | ENSP00000358857.4:p.Gln219TrpfsTer20 | |
| ENST00000428228.5:c.*555_*559dup | ENSP00000401081.1:p.= | |
| ENST00000471965.1:n.439_443dup | ||
| ENST00000486738.5:n.1087_1091dup | ||
| ENST00000492448.1:n.633_637dup | ||
| NM_000117.2:c.650_654dup , LRG_745t1:c.650_654dup | NP_000108.1:p.Gln219TrpfsTer20 | |
| XM_024452349.1:c.656_660dup | XP_024308117.1:p.Gln221TrpfsTer20 | |
| NM_000117.3:c.650_654dup MANE Select | NP_000108.1:p.Gln219TrpfsTer20 |