Linked Data
ClinVar Variation Id:
1616539
ClinVar RCV Id:
RCV002084383
dbSNP Id:
rs782774761
ExAC:
X:152955969 G / GC
gnomAD v4:
X-153690514-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153690517dup , CM000685.2:g.153690517dup | GRCh38 |
| NC_000023.10:g.152955972dup , CM000685.1:g.152955972dup | GRCh37 |
| NC_000023.9:g.152609166dup | NCBI36 |
| NG_012016.1:g.7221dup | |
| NG_012016.2:g.7221dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.394+11dup MANE Select | ENSP00000253122.5:n.394+11dup | |
| ENST00000675713.1:n.148+11dup | ||
| ENST00000253122.9:c.394+11dup | ENSP00000253122.5:n.394+11dup | |
| ENST00000430077.6:c.49+11dup | ENSP00000403041.2:n.49+11dup | |
| ENST00000476466.1:n.257dup | ||
| NM_001142805.1:c.394+11dup | NP_001136277.1:n.394+11dup | |
| NM_001142806.1:c.49+11dup | NP_001136278.1:n.49+11dup | |
| NM_005629.3:c.394+11dup | NP_005620.1:n.394+11dup | |
| NM_005629.4:c.394+11dup MANE Select | NP_005620.1:n.394+11dup | |
| NM_001142805.2:c.394+11dup | NP_001136277.1:n.394+11dup |