Linked Data
dbSNP Id:
rs104886054
MyVariant Identifiers:
chrX:g.107815048dup (hg19)
chrX:g.107815043_107815044insC (hg19)
chrX:g.108571818dup (hg38)
chrX:g.108571813_108571814insC (hg38)
PubMed:
PMID:15954103
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108571818dup , CM000685.2:g.108571818dup | GRCh38 |
| NC_000023.10:g.107815048dup , CM000685.1:g.107815048dup | GRCh37 |
| NC_000023.9:g.107701704dup | NCBI36 |
| NG_011977.1:g.136895dup | |
| NG_011977.2:g.136895dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.446dup MANE Select | ENSP00000331902.7:p.Gly150TrpfsTer8 | |
| ENST00000361603.7:c.446dup | ENSP00000354505.2:p.Gly150TrpfsTer8 | |
| ENST00000328300.10:c.446dup | ENSP00000331902.6:p.Gly150TrpfsTer8 | |
| ENST00000361603.6:c.446dup | ENSP00000354505.2:p.Gly150TrpfsTer8 | |
| NM_000495.4:c.446dup | NP_000486.1:p.Gly150TrpfsTer8 | |
| NM_033380.2:c.446dup | NP_203699.1:p.Gly150TrpfsTer8 | |
| XM_005262070.2:c.446dup | XP_005262127.1:p.Gly150TrpfsTer8 | |
| XM_005262072.3:c.446dup | XP_005262129.1:p.Gly150TrpfsTer8 | |
| XM_006724616.2:c.446dup | XP_006724679.1:p.Gly150TrpfsTer8 | |
| XM_011530849.1:c.122dup | XP_011529151.1:p.Gly42TrpfsTer8 | |
| XM_011530850.1:c.446dup | XP_011529152.1:p.Gly150TrpfsTer8 | |
| XM_011530849.2:c.461dup | XP_011529151.2:p.Gly155TrpfsTer8 | |
| XM_017029259.2:c.461dup | XP_016884748.1:p.Gly155TrpfsTer8 | |
| XM_017029260.1:c.461dup | XP_016884749.1:p.Gly155TrpfsTer8 | |
| XM_017029261.1:c.461dup | XP_016884750.1:p.Gly155TrpfsTer8 | |
| XM_017029262.2:c.461dup | XP_016884751.1:p.Gly155TrpfsTer8 | |
| NM_000495.5:c.446dup | NP_000486.1:p.Gly150TrpfsTer8 | |
| NM_033380.3:c.446dup MANE Select | NP_203699.1:p.Gly150TrpfsTer8 |