Linked Data
ClinVar Variation Id:
133073
dbSNP Id:
rs193922877
PubMed:
PMID:16917943
ERepo:
CA024161/MONDO:0018493/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580127del , CM000681.2:g.38580127del | GRCh38 |
| NC_000019.9:g.39070767del , CM000681.1:g.39070767del | GRCh37 |
| NC_000019.8:g.43762607del | NCBI36 |
| NG_008866.1:g.151428del , LRG_766:g.151428del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000593677.2:c.1446del | ||
| ENST00000688602.1:c.2843del | ||
| ENST00000689936.1:c.2815del | ||
| ENST00000359596.8:c.14510del MANE Select | ENSP00000352608.2:p.Gln4837ArgfsTer3 | |
| ENST00000355481.8:c.14495del | ENSP00000347667.3:p.Gln4832ArgfsTer3 | |
| ENST00000359596.7:c.14510del | ENSP00000352608.2:p.Gln4837ArgfsTer3 | |
| ENST00000360985.7:c.14492del | ENSP00000354254.4:p.Gln4831ArgfsTer3 | |
| NM_000540.2:c.14510del , LRG_766t1:c.14510del | NP_000531.2:p.Gln4837ArgfsTer3 | |
| NM_001042723.1:c.14495del | NP_001036188.1:p.Gln4832ArgfsTer3 | |
| XM_006723317.1:c.14492del | XP_006723380.1:p.Gln4831ArgfsTer3 | |
| XM_006723319.1:c.14477del | XP_006723382.1:p.Gln4826ArgfsTer3 | |
| XM_011527204.1:c.14507del | XP_011525506.1:p.Gln4836ArgfsTer3 | |
| XM_011527205.1:c.14423del | XP_011525507.1:p.Gln4808ArgfsTer3 | |
| XM_006723317.2:c.14492del | XP_006723380.1:p.Gln4831ArgfsTer3 | |
| XM_006723319.2:c.14477del | XP_006723382.1:p.Gln4826ArgfsTer3 | |
| XM_011527205.2:c.14423del | XP_011525507.1:p.Gln4808ArgfsTer3 | |
| NM_000540.3:c.14510del MANE Select | NP_000531.2:p.Gln4837ArgfsTer3 | |
| NM_001042723.2:c.14495del | NP_001036188.1:p.Gln4832ArgfsTer3 |