Linked Data
ClinVar Variation Id:
445463
dbSNP Id:
rs758037994
ExAC:
X:107159223 CT / C
gnomAD v2:
X-107159223-CT-C
gnomAD v3:
X-107915993-CT-C
gnomAD v4:
X-107915993-CT-C
MyVariant Identifiers:
chrX:g.107159224del (hg19)
chrX:g.107915995del (hg38)
chrX:g.107915994del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.107915998del , CM000685.2:g.107915998del | GRCh38 |
| NC_000023.10:g.107159228del , CM000685.1:g.107159228del | GRCh37 |
| NC_000023.9:g.107045884del | NCBI36 |
| NG_011907.1:g.95145del | |
| NG_011907.2:g.95145del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262843.11:c.1074-4del MANE Select | ENSP00000262843.6:n.1074-4del | |
| ENST00000262843.10:c.1074-4del | ENSP00000262843.6:n.1074-4del | |
| ENST00000443968.2:c.1074-4del | ENSP00000413976.2:n.1074-4del | |
| NM_012216.3:c.1074-4del | NP_036348.2:n.1074-4del | |
| NM_052817.2:c.1074-4del | NP_438112.2:n.1074-4del | |
| NR_110395.1:n.326+17036del | ||
| XM_005262062.3:c.1014-4del | XP_005262119.1:n.1014-4del | |
| XM_005262062.5:c.1014-4del | XP_005262119.1:n.1014-4del | |
| XM_017029239.2:c.1014-4del | XP_016884728.1:n.1014-4del | |
| NM_012216.4:c.1074-4del MANE Select | NP_036348.2:n.1074-4del | |
| NM_052817.3:c.1074-4del | NP_438112.2:n.1074-4del | |
| NM_001382751.1:c.1014-4del | NP_001369680.1:n.1014-4del | |
| NM_001382752.1:c.1014-4del | NP_001369681.1:n.1014-4del |