Linked Data
dbSNP Id:
rs781964988
gnomAD v2:
X-152959733-T-TGG
gnomAD v3:
X-153694278-T-TGG
gnomAD v4:
X-153694278-T-TGG
MyVariant Identifiers:
chrX:g.152959733_152959734insGG (hg19)
chrX:g.153694278_153694279insGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694283_153694284dup , CM000685.2:g.153694283_153694284dup | GRCh38 |
| NC_000023.10:g.152959738_152959739dup , CM000685.1:g.152959738_152959739dup | GRCh37 |
| NC_000023.9:g.152612932_152612933dup | NCBI36 |
| NG_012016.1:g.10987_10988dup | |
| NG_012016.2:g.10987_10988dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1392+16_1392+17dup MANE Select | ENSP00000253122.5:n.1392+16_1392+17dup | |
| ENST00000253122.9:c.1392+16_1392+17dup | ENSP00000253122.5:n.1392+16_1392+17dup | |
| ENST00000413787.1:c.321+16_321+17dup | ENSP00000400463.1:n.321+16_321+17dup | |
| ENST00000430077.6:c.1047+16_1047+17dup | ENSP00000403041.2:n.1047+16_1047+17dup | |
| ENST00000442457.1:c.446+16_446+17dup | ||
| ENST00000485324.1:n.1553_1554dup | ||
| NM_001142805.1:c.1362+16_1362+17dup | NP_001136277.1:n.1362+16_1362+17dup | |
| NM_001142806.1:c.1047+16_1047+17dup | NP_001136278.1:n.1047+16_1047+17dup | |
| NM_005629.3:c.1392+16_1392+17dup | NP_005620.1:n.1392+16_1392+17dup | |
| NM_005629.4:c.1392+16_1392+17dup MANE Select | NP_005620.1:n.1392+16_1392+17dup | |
| NM_001142805.2:c.1362+16_1362+17dup | NP_001136277.1:n.1362+16_1362+17dup |