Linked Data
ClinVar Variation Id:
6888
dbSNP Id:
rs121908985
gnomAD v2:
5-52942174-TG-T
gnomAD v4:
5-53646344-TG-T
MyVariant Identifiers:
chr5:g.52942176del (hg19)
chr5:g.52942175del (hg19)
chr5:g.53646346del (hg38)
chr5:g.53646345del (hg38)
PubMed:
PMID:10944442
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53646346del , CM000667.2:g.53646346del | GRCh38 |
| NC_000005.9:g.52942176del , CM000667.1:g.52942176del | GRCh37 |
| NC_000005.8:g.52977933del | NCBI36 |
| NG_008200.1:g.90712del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296684.10:c.291del MANE Select | ENSP00000296684.5:p.Trp97Ter | |
| ENST00000296684.9:c.291del | ENSP00000296684.5:p.Trp97Ter | |
| ENST00000502423.5:c.*158del | ENSP00000422177.1:n.*158del | |
| ENST00000506765.1:c.279del | ENSP00000424570.1:p.Trp93Ter | |
| ENST00000506974.5:c.*67del | ENSP00000425967.1:n.*67del | |
| ENST00000507026.5:c.*265del | ENSP00000424993.1:n.*265del | |
| ENST00000509443.1:n.152del | ||
| NM_002495.2:c.291del | NP_002486.1:p.Trp97Ter | |
| XM_005248525.3:c.291del | XP_005248582.1:p.Trp97Ter | |
| XM_011543415.1:c.117del | XP_011541717.1:p.Trp39Ter | |
| NM_001318051.1:c.291del | NP_001304980.1:p.Trp97Ter | |
| NM_002495.3:c.291del | NP_002486.1:p.Trp97Ter | |
| NR_134473.1:n.493del | ||
| NR_134474.1:n.410del | ||
| NR_134475.1:n.445del | ||
| NM_002495.4:c.291del MANE Select | NP_002486.1:p.Trp97Ter | |
| NM_001318051.2:c.291del | NP_001304980.1:p.Trp97Ter | |
| NR_134473.2:n.487del | ||
| NR_134474.2:n.404del | ||
| NR_134475.2:n.439del |