Linked Data
ClinVar Variation Id:
195401
dbSNP Id:
rs387906492
gnomAD v4:
X-25013659-T-TGCCGCCGCC
MyVariant Identifiers:
chrX:g.25031776_25031777insGCCGCCGCC (hg19)
chrX:g.25013659_25013660insGCCGCCGCC (hg38)
PubMed:
PMID:15199382
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013683_25013691dup , CM000685.2:g.25013683_25013691dup | GRCh38 |
| NC_000023.10:g.25031800_25031808dup , CM000685.1:g.25031800_25031808dup | GRCh37 |
| NC_000023.9:g.24941721_24941729dup | NCBI36 |
| NG_008281.1:g.7281_7289dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.327_335dup MANE Select | ENSP00000368332.4:p.Ala112_Ala113insAlaAlaAla | |
| ENST00000379044.4:c.327_335dup | ENSP00000368332.4:p.Ala112_Ala113insAlaAlaAla | |
| NM_139058.2:c.327_335dup | NP_620689.1:p.Ala112_Ala113insAlaAlaAla | |
| NM_139058.3:c.327_335dup MANE Select | NP_620689.1:p.Ala112_Ala113insAlaAlaAla |