Linked Data
ClinVar Variation Id:
433171
dbSNP Id:
rs1557182670
gnomAD v3:
X-154381051-CG-C
gnomAD v4:
X-154381051-CG-C
PubMed:
PMID:8595407
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154381053del , CM000685.2:g.154381053del | GRCh38 |
| NC_000023.10:g.153609413del , CM000685.1:g.153609413del | GRCh37 |
| NC_000023.9:g.153262607del | NCBI36 |
| NG_008677.1:g.11618del , LRG_745:g.11618del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.572+49del | ENSP00000507245.1:n.572+49del | |
| ENST00000682478.1:n.762+49del | ||
| ENST00000683576.1:n.811del | ||
| ENST00000683627.1:c.621del | ENSP00000507533.1:p.Pro208LeufsTer29 | |
| ENST00000684082.1:c.578del | ENSP00000508266.1:n.578del | |
| ENST00000684633.1:n.593del | ||
| ENST00000684678.1:c.568+49del | ENSP00000507059.1:n.568+49del | |
| ENST00000369842.9:c.621del MANE Select | ENSP00000358857.4:p.Pro208LeufsTer29 | |
| ENST00000369835.3:c.516del | ENSP00000358850.3:p.Pro173LeufsTer29 | |
| ENST00000369842.8:c.621del | ENSP00000358857.4:p.Pro208LeufsTer29 | |
| ENST00000428228.5:c.*526del | ENSP00000401081.1:n.*526del | |
| ENST00000471965.1:n.410del | ||
| ENST00000486738.5:n.1058del | ||
| ENST00000492448.1:n.604del | ||
| NM_000117.2:c.621del , LRG_745t1:c.621del | NP_000108.1:p.Pro208LeufsTer29 | |
| XM_024452349.1:c.627del | XP_024308117.1:p.Pro210LeufsTer29 | |
| NM_000117.3:c.621del MANE Select | NP_000108.1:p.Pro208LeufsTer29 |