Linked Data
ClinVar Variation Id:
212188
ClinVar RCV Id:
RCV000192887
dbSNP Id:
rs797045962
gnomAD v2:
X-73749263-G-GC
MyVariant Identifiers:
chrX:g.73749269dupC (hg19)
chrX:g.73749263_73749264insC (hg19)
chrX:g.74529434dupC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74529434dup , CM000685.2:g.74529434dup | GRCh38 |
| NC_000023.10:g.73749269dup , CM000685.1:g.73749269dup | GRCh37 |
| NC_000023.9:g.73665994dup | NCBI36 |
| NG_011641.1:g.113185dup | |
| NG_011641.2:g.113185dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000587091.6:c.1392dup MANE Select | ENSP00000465734.1:p.Ile465HisfsTer? | |
| ENST00000636771.1:c.1301dup | ||
| ENST00000587091.5:c.1392dup | ENSP00000465734.1:p.Ile465HisfsTer? | |
| ENST00000590447.1:c.611-1899dup | ||
| NM_006517.4:c.1392dup | NP_006508.2:p.Ile465HisfsTer? | |
| XM_005262294.1:c.1171-1899dup | XP_005262351.1:n.1171-1899dup | |
| NM_006517.5:c.1392dup MANE Select | NP_006508.2:p.Ile465HisfsTer? |