Linked Data
dbSNP Id:
rs1569489782
gnomAD v2:
X-107819093-CTTGT-C
gnomAD v4:
X-108575863-CTTGT-C
MyVariant Identifiers:
chrX:g.107819094_107819097del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108575866_108575869del , CM000685.2:g.108575866_108575869del | GRCh38 |
| NC_000023.10:g.107819096_107819099del , CM000685.1:g.107819096_107819099del | GRCh37 |
| NC_000023.9:g.107705752_107705755del | NCBI36 |
| NG_011977.1:g.140943_140946del | |
| NG_011977.2:g.140943_140946del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.547-44_547-41del MANE Select | ENSP00000331902.7:n.547-44_547-41del | |
| ENST00000361603.7:c.547-44_547-41del | ENSP00000354505.2:n.547-44_547-41del | |
| ENST00000328300.10:c.547-44_547-41del | ENSP00000331902.6:n.547-44_547-41del | |
| ENST00000361603.6:c.547-44_547-41del | ENSP00000354505.2:n.547-44_547-41del | |
| NM_000495.4:c.547-44_547-41del | NP_000486.1:n.547-44_547-41del | |
| NM_033380.2:c.547-44_547-41del | NP_203699.1:n.547-44_547-41del | |
| XM_005262070.2:c.547-44_547-41del | XP_005262127.1:n.547-44_547-41del | |
| XM_005262072.3:c.547-44_547-41del | XP_005262129.1:n.547-44_547-41del | |
| XM_006724616.2:c.547-44_547-41del | XP_006724679.1:n.547-44_547-41del | |
| XM_011530849.1:c.223-44_223-41del | XP_011529151.1:n.223-44_223-41del | |
| XM_011530850.1:c.547-44_547-41del | XP_011529152.1:n.547-44_547-41del | |
| XM_011530849.2:c.562-44_562-41del | XP_011529151.2:n.562-44_562-41del | |
| XM_017029259.2:c.562-44_562-41del | XP_016884748.1:n.562-44_562-41del | |
| XM_017029260.1:c.562-44_562-41del | XP_016884749.1:n.562-44_562-41del | |
| XM_017029261.1:c.562-44_562-41del | XP_016884750.1:n.562-44_562-41del | |
| XM_017029262.2:c.562-44_562-41del | XP_016884751.1:n.562-44_562-41del | |
| NM_000495.5:c.547-44_547-41del | NP_000486.1:n.547-44_547-41del | |
| NM_033380.3:c.547-44_547-41del MANE Select | NP_203699.1:n.547-44_547-41del |