Linked Data
ClinVar Variation Id:
524015
ClinVar RCV Id:
RCV000627507
dbSNP Id:
rs1555779450
gnomAD v4:
19-38486163-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38486164_38486165del , CM000681.2:g.38486164_38486165del | GRCh38 |
| NC_000019.9:g.38976804_38976805del , CM000681.1:g.38976804_38976805del | GRCh37 |
| NC_000019.8:g.43668644_43668645del | NCBI36 |
| NG_008866.1:g.57465_57466del , LRG_766:g.57465_57466del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.5509_5510del | ENSP00000471601.2:p.Gln1837ValfsTer20 | |
| ENST00000359596.8:c.5509_5510del MANE Select | ENSP00000352608.2:p.Gln1837ValfsTer20 | |
| ENST00000355481.8:c.5509_5510del | ENSP00000347667.3:p.Gln1837ValfsTer20 | |
| ENST00000359596.7:c.5509_5510del | ENSP00000352608.2:p.Gln1837ValfsTer20 | |
| ENST00000360985.7:c.5506_5507del | ENSP00000354254.4:p.Gln1836ValfsTer20 | |
| NM_000540.2:c.5509_5510del , LRG_766t1:c.5509_5510del | NP_000531.2:p.Gln1837ValfsTer20 | |
| NM_001042723.1:c.5509_5510del | NP_001036188.1:p.Gln1837ValfsTer20 | |
| XM_006723317.1:c.5509_5510del | XP_006723380.1:p.Gln1837ValfsTer20 | |
| XM_006723319.1:c.5509_5510del | XP_006723382.1:p.Gln1837ValfsTer20 | |
| XM_011527204.1:c.5506_5507del | XP_011525506.1:p.Gln1836ValfsTer20 | |
| XM_011527205.1:c.5509_5510del | XP_011525507.1:p.Gln1837ValfsTer20 | |
| XM_006723317.2:c.5509_5510del | XP_006723380.1:p.Gln1837ValfsTer20 | |
| XM_006723319.2:c.5509_5510del | XP_006723382.1:p.Gln1837ValfsTer20 | |
| XM_011527205.2:c.5509_5510del | XP_011525507.1:p.Gln1837ValfsTer20 | |
| XR_001753735.1:n.5592_5593del | ||
| NM_000540.3:c.5509_5510del MANE Select | NP_000531.2:p.Gln1837ValfsTer20 | |
| NM_001042723.2:c.5509_5510del | NP_001036188.1:p.Gln1837ValfsTer20 |