Linked Data
ClinVar Variation Id:
135272
dbSNP Id:
rs587778691
ExAC:
16:11349186 GGGGGCC / G
gnomAD v2:
16-11349186-GGGGGCC-G
gnomAD v3:
16-11255329-GGGGGCC-G
gnomAD v4:
16-11255329-GGGGGCC-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11255339_11255344del , CM000678.2:g.11255339_11255344del | GRCh38 |
| NC_000016.9:g.11349196_11349201del , CM000678.1:g.11349196_11349201del | GRCh37 |
| NC_000016.8:g.11256697_11256702del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332029.4:c.144_149del (SOCS1) MANE Select | ENSP00000329418.2:p.Ala49_Pro50del | |
| ENST00000332029.3:c.144_149del (SOCS1) | ENSP00000329418.2:p.Ala49_Pro50del | |
| ENST00000644787.1:c.144_149del (SOCS1) | ENSP00000496577.1:p.Ala49_Pro50del | |
| ENST00000649869.1:n.152+5561_152+5566del (RMI2) | ||
| ENST00000332029.2:c.144_149del (SOCS1) | ENSP00000329418.2:p.Ala49_Pro50del | |
| ENST00000572173.1:c.-516+5561_-516+5566del (RMI2) | ENSP00000461206.1:n.-516+5561_-516+5566del | |
| ENST00000573910.1:n.160+5561_160+5566del (RMI2) | ||
| NM_003745.1:c.144_149del (SOCS1) | NP_003736.1:p.Ala49_Pro50del | |
| XR_933070.1:n.733+5561_733+5566del | ||
| XR_933070.3:n.876+5561_876+5566del | ||
| NM_003745.2:c.144_149del (SOCS1) MANE Select | NP_003736.1:p.Ala49_Pro50del |