Linked Data
dbSNP Id:
rs1432345801
gnomAD v3:
X-153688843-TCCCCCGCCCGCCGCGGCCTCCTC-T
gnomAD v4:
X-153688843-TCCCCCGCCCGCCGCGGCCTCCTC-T
MyVariant Identifiers:
chrX:g.153688844_153688866del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153688848_153688870del , CM000685.2:g.153688848_153688870del | GRCh38 |
| NC_000023.10:g.152954303_152954325del , CM000685.1:g.152954303_152954325del | GRCh37 |
| NC_000023.9:g.152607497_152607519del | NCBI36 |
| NG_012016.1:g.5552_5574del | |
| NG_012016.2:g.5552_5574del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253122.10:c.262+12_262+34del (SLC6A8) MANE Select | ENSP00000253122.5:n.262+12_262+34del | |
| ENST00000253122.9:c.262+12_262+34del (SLC6A8) | ENSP00000253122.5:n.262+12_262+34del | |
| ENST00000458354.5:c.-54_-32del (PNCK) | ENSP00000401542.1:n.-54_-32del | |
| ENST00000476466.1:n.114+12_114+34del (SLC6A8) | ||
| ENST00000480693.1:n.13_35del (PNCK) | ||
| NM_001142805.1:c.262+12_262+34del (SLC6A8) | NP_001136277.1:n.262+12_262+34del | |
| NM_005629.3:c.262+12_262+34del (SLC6A8) | NP_005620.1:n.262+12_262+34del | |
| NM_005629.4:c.262+12_262+34del (SLC6A8) MANE Select | NP_005620.1:n.262+12_262+34del | |
| NM_001142805.2:c.262+12_262+34del (SLC6A8) | NP_001136277.1:n.262+12_262+34del |