Linked Data
ClinVar Variation Id:
371249
ClinVar RCV Id:
RCV000410450
dbSNP Id:
rs1057517124
PubMed:
PMID:22350544
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80203114del , CM000668.2:g.80203114del | GRCh38 |
| NC_000006.11:g.80912831del , CM000668.1:g.80912831del | GRCh37 |
| NC_000006.10:g.80969550del | NCBI36 |
| NG_009775.1:g.101488del | |
| NG_009775.2:g.101488del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320393.9:c.853del MANE Select | ENSP00000318351.5:p.Arg285GlufsTer3 | |
| ENST00000320393.8:c.853del | ENSP00000318351.5:p.Arg285GlufsTer3 | |
| ENST00000356489.9:c.853del | ENSP00000348880.5:p.Arg285GlufsTer3 | |
| ENST00000468520.1:n.13del | ||
| NM_000056.3:c.853del | NP_000047.1:p.Arg285GlufsTer3 | |
| NM_183050.2:c.853del | NP_898871.1:p.Arg285GlufsTer3 | |
| XM_005248756.3:c.853del | XP_005248813.1:p.Arg285GlufsTer3 | |
| XM_006715542.2:c.643del | XP_006715605.1:p.Arg215GlufsTer3 | |
| XM_011536023.1:c.853del | XP_011534325.1:p.Arg285GlufsTer3 | |
| XM_011536024.1:c.853del | XP_011534326.1:p.Arg285GlufsTer3 | |
| XM_011536025.1:c.853del | XP_011534327.1:p.Arg285GlufsTer3 | |
| XM_011536026.1:c.643del | XP_011534328.1:p.Arg215GlufsTer3 | |
| NM_000056.4:c.853del | NP_000047.1:p.Arg285GlufsTer3 | |
| NM_001318975.1:c.643del | NP_001305904.1:p.Arg215GlufsTer3 | |
| NM_183050.3:c.853del | NP_898871.1:p.Arg285GlufsTer3 | |
| NR_134945.1:n.1031del | ||
| XM_005248756.5:c.853del | XP_005248813.1:p.Arg285GlufsTer3 | |
| XM_011536023.3:c.853del | XP_011534325.1:p.Arg285GlufsTer3 | |
| XM_011536024.3:c.853del | XP_011534326.1:p.Arg285GlufsTer3 | |
| XM_011536025.3:c.853del | XP_011534327.1:p.Arg285GlufsTer3 | |
| XR_001743546.2:n.883del | ||
| XR_001743547.2:n.883del | ||
| XR_001743548.2:n.883del | ||
| XR_001743549.2:n.883del | ||
| XR_002956292.1:n.883del | ||
| NM_183050.4:c.853del MANE Select | NP_898871.1:p.Arg285GlufsTer3 | |
| NR_134945.2:n.970del | ||
| NM_000056.5:c.853del | NP_000047.1:p.Arg285GlufsTer3 |