Linked Data
ClinVar Variation Id:
259047
dbSNP Id:
rs748325646
ExAC:
X:136648984 A / ACGC
gnomAD v2:
X-136648984-A-ACGC
gnomAD v3:
X-137566825-A-ACGC
gnomAD v4:
X-137566825-A-ACGC
MyVariant Identifiers:
chrX:g.136649009_136649011dupCGC (hg19)
chrX:g.136648996_136648997insCGC (hg19)
chrX:g.136648993_136648994insCGC (hg19)
chrX:g.136648987_136648988insCGC (hg19)
chrX:g.136648984_136648985insCGC (hg19)
chrX:g.137566850_137566852dupCGC (hg38)
chrX:g.137566837_137566838insCGC (hg38)
chrX:g.137566825_137566826insCGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566850_137566852dup , CM000685.2:g.137566850_137566852dup | GRCh38 |
| NC_000023.10:g.136649009_136649011dup , CM000685.1:g.136649009_136649011dup | GRCh37 |
| NC_000023.9:g.136476675_136476677dup | NCBI36 |
| NG_008115.1:g.5664_5666dup | |
| NG_008115.2:g.5724_5726dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.159_161dup MANE Select | ENSP00000287538.5:p.Ala54_Ala55insAla | |
| ENST00000287538.9:c.159_161dup | ENSP00000287538.5:p.Ala54_Ala55insAla | |
| ENST00000370606.3:c.159_161dup | ENSP00000359638.3:p.Ala54_Ala55insAla | |
| NM_003413.3:c.159_161dup | NP_003404.1:p.Ala54_Ala55insAla | |
| NM_001330661.1:c.159_161dup | NP_001317590.1:p.Ala54_Ala55insAla | |
| NM_003413.4:c.159_161dup MANE Select | NP_003404.1:p.Ala54_Ala55insAla |