Linked Data
dbSNP Id:
rs2091438478
gnomAD v3:
X-153688879-G-GCCGGCCCCCGC
gnomAD v4:
X-153688879-G-GCCGGCCCCCGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153688883_153688893dup , CM000685.2:g.153688883_153688893dup | GRCh38 |
| NC_000023.10:g.152954338_152954348dup , CM000685.1:g.152954338_152954348dup | GRCh37 |
| NC_000023.9:g.152607532_152607542dup | NCBI36 |
| NG_012016.1:g.5587_5597dup | |
| NG_012016.2:g.5587_5597dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.262+47_262+57dup (SLC6A8) MANE Select | ENSP00000253122.5:n.262+47_262+57dup | |
| ENST00000253122.9:c.262+47_262+57dup (SLC6A8) | ENSP00000253122.5:n.262+47_262+57dup | |
| ENST00000458354.5:c.-78_-68dup (PNCK) | ENSP00000401542.1:n.-78_-68dup | |
| ENST00000476466.1:n.114+47_114+57dup (SLC6A8) | ||
| NM_001142805.1:c.262+47_262+57dup (SLC6A8) | NP_001136277.1:n.262+47_262+57dup | |
| NM_005629.3:c.262+47_262+57dup (SLC6A8) | NP_005620.1:n.262+47_262+57dup | |
| NM_005629.4:c.262+47_262+57dup (SLC6A8) MANE Select | NP_005620.1:n.262+47_262+57dup | |
| NM_001142805.2:c.262+47_262+57dup (SLC6A8) | NP_001136277.1:n.262+47_262+57dup |