Linked Data
ClinVar Variation Id:
2734601
ClinVar RCV Id:
RCV003555118
dbSNP Id:
rs113994083
gnomAD v4:
3-184143504-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184143509del , CM000665.2:g.184143509del | GRCh38 |
| NC_000003.11:g.183861297del , CM000665.1:g.183861297del | GRCh37 |
| NC_000003.10:g.185343991del | NCBI36 |
| NG_015826.1:g.13488del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000465218.3:n.2135del | ||
| ENST00000468748.7:n.2355del | ||
| ENST00000484154.2:n.2342del | ||
| ENST00000491008.6:n.2577del | ||
| ENST00000492226.2:n.2379del | ||
| ENST00000492773.6:c.1567del | ||
| ENST00000647636.1:c.*662del | ENSP00000497505.1:n.*662del | |
| ENST00000647909.1:c.1837del | ENSP00000498164.1:p.Leu613CysfsTer21 | |
| ENST00000648145.1:c.1585del | ||
| ENST00000648189.1:c.1647del | ||
| ENST00000648256.1:c.1785del | ENSP00000497356.1:n.1785del | |
| ENST00000648314.1:c.*1231del | ENSP00000496920.1:n.*1231del | |
| ENST00000648599.1:c.*1096del | ENSP00000497159.1:n.*1096del | |
| ENST00000648630.1:c.1991del | ENSP00000497887.1:n.1991del | |
| ENST00000648682.1:c.*952del | ENSP00000498185.1:n.*952del | |
| ENST00000648882.1:c.*1639del | ENSP00000497603.1:n.*1639del | |
| ENST00000648890.1:c.*236del | ENSP00000497503.1:n.*236del | |
| ENST00000648915.2:c.1813del MANE Select | ENSP00000497160.1:p.Leu605CysfsTer21 | |
| ENST00000649545.1:c.1472del | ||
| ENST00000649688.1:c.*1405del | ENSP00000497097.1:n.*1405del | |
| ENST00000649814.1:n.1878del | ||
| ENST00000650270.1:c.1691del | ||
| ENST00000273783.7:c.1813del | ENSP00000273783.3:p.Leu605CysfsTer21 | |
| ENST00000444495.1:c.1813del | ENSP00000409142.1:p.Leu605CysfsTer21 | |
| ENST00000465218.2:n.595del | ||
| ENST00000481054.5:n.2206del | ||
| ENST00000484154.1:n.249del | ||
| ENST00000491144.5:n.2317del | ||
| NM_003907.2:c.1813del | NP_003898.2:p.Leu605CysfsTer21 | |
| XM_011513265.1:c.1063del | XP_011511567.1:p.Leu355CysfsTer21 | |
| XM_011513266.1:c.976del | XP_011511568.1:p.Leu326CysfsTer21 | |
| XR_924208.1:n.2780del | ||
| NM_003907.3:c.1813del MANE Select | NP_003898.2:p.Leu605CysfsTer21 | |
| XM_011513266.3:c.976del | XP_011511568.1:p.Leu326CysfsTer21 | |
| XR_001740352.2:n.2187del | ||
| XR_001740353.2:n.2203del | ||
| XR_924208.2:n.2192del |