Linked Data
ClinVar Variation Id:
548508
dbSNP Id:
rs1438501767
gnomAD v2:
19-38976430-ACCT-A
gnomAD v4:
19-38485790-ACCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38485795_38485797del , CM000681.2:g.38485795_38485797del | GRCh38 |
| NC_000019.9:g.38976435_38976437del , CM000681.1:g.38976435_38976437del | GRCh37 |
| NC_000019.8:g.43668275_43668277del | NCBI36 |
| NG_008866.1:g.57096_57098del , LRG_766:g.57096_57098del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.5140_5142del | ENSP00000471601.2:p.Leu1714del | |
| ENST00000359596.8:c.5140_5142del MANE Select | ENSP00000352608.2:p.Leu1714del | |
| ENST00000355481.8:c.5140_5142del | ENSP00000347667.3:p.Leu1714del | |
| ENST00000359596.7:c.5140_5142del | ENSP00000352608.2:p.Leu1714del | |
| ENST00000360985.7:c.5137_5139del | ENSP00000354254.4:p.Leu1713del | |
| NM_000540.2:c.5140_5142del , LRG_766t1:c.5140_5142del | NP_000531.2:p.Leu1714del | |
| NM_001042723.1:c.5140_5142del | NP_001036188.1:p.Leu1714del | |
| XM_006723317.1:c.5140_5142del | XP_006723380.1:p.Leu1714del | |
| XM_006723319.1:c.5140_5142del | XP_006723382.1:p.Leu1714del | |
| XM_011527204.1:c.5137_5139del | XP_011525506.1:p.Leu1713del | |
| XM_011527205.1:c.5140_5142del | XP_011525507.1:p.Leu1714del | |
| XM_006723317.2:c.5140_5142del | XP_006723380.1:p.Leu1714del | |
| XM_006723319.2:c.5140_5142del | XP_006723382.1:p.Leu1714del | |
| XM_011527205.2:c.5140_5142del | XP_011525507.1:p.Leu1714del | |
| XR_001753735.1:n.5223_5225del | ||
| NM_000540.3:c.5140_5142del MANE Select | NP_000531.2:p.Leu1714del | |
| NM_001042723.2:c.5140_5142del | NP_001036188.1:p.Leu1714del |