Linked Data
ClinVar Variation Id:
29955
ClinVar RCV Id:
RCV000022847
dbSNP Id:
rs398122850
MyVariant Identifiers:
chrX:g.136649015_136649016insGCCGCC (hg19)
chrX:g.137566856_137566857insGCCGCC (hg38)
PubMed:
PMID:20452998
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566856_137566857insGCCGCC , CM000685.2:g.137566856_137566857insGCCGCC | GRCh38 |
| NC_000023.10:g.136649015_136649016insGCCGCC , CM000685.1:g.136649015_136649016insGCCGCC | GRCh37 |
| NC_000023.9:g.136476681_136476682insGCCGCC | NCBI36 |
| NG_008115.1:g.5670_5671insGCCGCC | |
| NG_008115.2:g.5730_5731insGCCGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.165_166insGCCGCC MANE Select | ENSP00000287538.5:p.Ala55_Phe56insAlaAla | |
| ENST00000287538.9:c.165_166insGCCGCC | ENSP00000287538.5:p.Ala55_Phe56insAlaAla | |
| ENST00000370606.3:c.165_166insGCCGCC | ENSP00000359638.3:p.Ala55_Phe56insAlaAla | |
| NM_003413.3:c.165_166insGCCGCC | NP_003404.1:p.Ala55_Phe56insAlaAla | |
| NM_001330661.1:c.165_166insGCCGCC | NP_001317590.1:p.Ala55_Phe56insAlaAla | |
| NM_003413.4:c.165_166insGCCGCC MANE Select | NP_003404.1:p.Ala55_Phe56insAlaAla |