Linked Data
dbSNP Id:
rs1713435874
gnomAD v3:
3-184137923-GTTTCTGTGATGAC-G
gnomAD v4:
3-184137923-GTTTCTGTGATGAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184137924_184137936del , CM000665.2:g.184137924_184137936del | GRCh38 |
| NC_000003.11:g.183855712_183855724del , CM000665.1:g.183855712_183855724del | GRCh37 |
| NC_000003.10:g.185338406_185338418del | NCBI36 |
| NG_015826.1:g.7903_7915del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.556_568del | ||
| ENST00000468748.7:n.516_528del | ||
| ENST00000484154.2:n.1154_1166del | ||
| ENST00000491008.6:n.1281_1293del | ||
| ENST00000492226.2:n.530_542del | ||
| ENST00000492773.6:c.265_277del | ||
| ENST00000647636.1:c.533_545del | ENSP00000497505.1:p.Val178GlyfsTer2 | |
| ENST00000647909.1:c.557_569del | ENSP00000498164.1:p.Val186GlyfsTer2 | |
| ENST00000648145.1:c.301_313del | ||
| ENST00000648189.1:c.283_295del | ||
| ENST00000648256.1:c.482_494del | ENSP00000497356.1:p.Val161GlyfsTer2 | |
| ENST00000648314.1:c.533_545del | ENSP00000496920.1:p.Val178GlyfsTer2 | |
| ENST00000648599.1:c.533_545del | ENSP00000497159.1:p.Val178GlyfsTer2 | |
| ENST00000648630.1:c.527_539del | ENSP00000497887.1:p.Val176GlyfsTer2 | |
| ENST00000648682.1:c.533_545del | ENSP00000498185.1:p.Val178GlyfsTer2 | |
| ENST00000648882.1:c.*359_*371del | ENSP00000497603.1:n.*359_*371del | |
| ENST00000648890.1:c.533_545del | ENSP00000497503.1:p.Val178GlyfsTer2 | |
| ENST00000648915.2:c.533_545del MANE Select | ENSP00000497160.1:p.Val178GlyfsTer2 | |
| ENST00000649545.1:c.267_279del | ||
| ENST00000649688.1:c.533_545del | ENSP00000497097.1:p.Val178GlyfsTer2 | |
| ENST00000649814.1:n.582_594del | ||
| ENST00000650244.1:c.678_690del | ENSP00000497227.1:n.678_690del | |
| ENST00000650270.1:c.400_412del | ||
| ENST00000273783.7:c.533_545del | ENSP00000273783.3:p.Val178GlyfsTer2 | |
| ENST00000432982.5:c.245+1249_245+1261del | ||
| ENST00000444495.1:c.533_545del | ENSP00000409142.1:p.Val178GlyfsTer2 | |
| ENST00000481054.5:n.534_546del | ||
| ENST00000491008.5:n.497_509del | ||
| ENST00000491144.5:n.973_985del | ||
| ENST00000498831.1:n.488_500del | ||
| NM_003907.2:c.533_545del | NP_003898.2:p.Val178GlyfsTer2 | |
| XR_924208.1:n.1484_1496del | ||
| NM_003907.3:c.533_545del MANE Select | NP_003898.2:p.Val178GlyfsTer2 | |
| XM_011513266.3:c.-369_-357del | XP_011511568.1:n.-369_-357del | |
| XR_001740352.2:n.896_908del | ||
| XR_001740353.2:n.896_908del | ||
| XR_924208.2:n.896_908del |