Linked Data
ClinVar Variation Id:
3220
ClinVar RCV Id:
RCV000003375
dbSNP Id:
rs587777815
PubMed:
PMID:15894594
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77286817del , CM000676.2:g.77286817del | GRCh38 |
| NC_000014.8:g.77753160del , CM000676.1:g.77753160del | GRCh37 |
| NC_000014.7:g.76822913del | NCBI36 |
| NG_008897.1:g.39068del , LRG_844:g.39068del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.802del | ENSP00000451967.2:p.Arg268GlyfsTer12 | |
| ENST00000682247.1:c.1261del | ENSP00000507213.1:p.Arg421GlyfsTer12 | |
| ENST00000682382.1:c.833del | ||
| ENST00000682395.1:n.1439del | ||
| ENST00000682459.1:n.964del | ||
| ENST00000682467.1:c.1261del | ENSP00000508062.1:p.Arg421GlyfsTer12 | |
| ENST00000682706.1:n.38del | ||
| ENST00000682795.1:c.1261del | ENSP00000507574.1:p.Arg421GlyfsTer12 | |
| ENST00000682895.1:n.977del | ||
| ENST00000682955.1:n.549del | ||
| ENST00000683188.1:c.1236del | ||
| ENST00000683328.1:c.254del | ENSP00000508096.1:n.254del | |
| ENST00000683380.1:n.925del | ||
| ENST00000683828.1:c.970del | ||
| ENST00000684259.1:n.1112del | ||
| ENST00000684444.1:c.8del | ||
| ENST00000684549.1:n.812del | ||
| ENST00000261534.9:c.1261del MANE Select | ENSP00000261534.4:p.Arg421GlyfsTer12 | |
| ENST00000261534.8:c.1261del | ENSP00000261534.4:p.Arg421GlyfsTer12 | |
| ENST00000452340.7:n.1284del | ||
| ENST00000553880.5:n.132del | ||
| ENST00000554767.5:n.2047del | ||
| ENST00000554884.5:n.253del | ||
| ENST00000556404.1:n.395del | ||
| ENST00000556851.1:n.297del | ||
| ENST00000557675.5:n.351del | ||
| NM_013382.5:c.1261del , LRG_844t1:c.1261del | NP_037514.2:p.Arg421GlyfsTer12 | |
| XM_011536675.1:c.1261del | XP_011534977.1:p.Arg421GlyfsTer12 | |
| XM_011536676.1:c.928del | XP_011534978.1:p.Arg310GlyfsTer12 | |
| XM_011536677.1:c.802del | XP_011534979.1:p.Arg268GlyfsTer12 | |
| XM_011536678.1:c.1261del | XP_011534980.1:p.Arg421GlyfsTer12 | |
| XM_011536679.1:c.355del | XP_011534981.1:p.Arg119GlyfsTer12 | |
| XR_943416.1:n.1464del | ||
| XM_011536675.2:c.1261del | XP_011534977.1:p.Arg421GlyfsTer12 | |
| XM_011536676.2:c.928del | XP_011534978.1:p.Arg310GlyfsTer12 | |
| XM_011536677.3:c.802del | XP_011534979.1:p.Arg268GlyfsTer12 | |
| XR_001750279.1:n.1461del | ||
| XR_001750282.1:n.1914del | ||
| XR_943416.3:n.1462del | ||
| NM_013382.6:c.1261del | NP_037514.2:p.Arg421GlyfsTer12 | |
| NM_013382.7:c.1261del MANE Select | NP_037514.2:p.Arg421GlyfsTer12 |