Linked Data
dbSNP Id:
rs1567311211
gnomAD v2:
15-48521506-CTG-C
gnomAD v4:
15-48229309-CTG-C
MyVariant Identifiers:
chr15:g.48521507_48521508del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48229311_48229312del , CM000677.2:g.48229311_48229312del | GRCh38 |
| NC_000015.9:g.48521508_48521509del , CM000677.1:g.48521508_48521509del | GRCh37 |
| NC_000015.8:g.46308800_46308801del | NCBI36 |
| NG_021301.1:g.28011_28012del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686073.1:c.847_848del | ENSP00000508901.1:p.Val283SerfsTer5 | |
| ENST00000380993.8:c.847_848del MANE Select | ENSP00000370381.3:p.Val283SerfsTer5 | |
| ENST00000646012.1:c.985_986del | ENSP00000495813.1:p.Val329SerfsTer5 | |
| ENST00000647232.1:c.847_848del | ENSP00000493875.1:p.Val283SerfsTer5 | |
| ENST00000647546.1:c.847_848del | ENSP00000495332.1:p.Val283SerfsTer5 | |
| ENST00000330289.10:c.847_848del | ENSP00000331550.6:p.Val283SerfsTer5 | |
| ENST00000380993.7:c.847_848del | ENSP00000370381.3:p.Val283SerfsTer5 | |
| ENST00000396577.7:c.847_848del | ENSP00000379822.3:p.Val283SerfsTer5 | |
| ENST00000558252.5:n.4970_4971del | ||
| ENST00000558405.5:c.847_848del | ENSP00000453409.1:p.Val283SerfsTer5 | |
| ENST00000559641.5:c.286_287del | ENSP00000453230.1:p.Val96SerfsTer5 | |
| ENST00000559723.2:n.220_221del | ||
| ENST00000560692.5:n.4986_4987del | ||
| ENST00000561127.5:c.286_287del | ENSP00000453602.2:p.Val96SerfsTer5 | |
| NM_000338.2:c.847_848del | NP_000329.2:p.Val283SerfsTer5 | |
| NM_001184832.1:c.847_848del | NP_001171761.1:p.Val283SerfsTer5 | |
| XM_005254605.1:c.943_944del | XP_005254662.1:p.Val315SerfsTer5 | |
| XM_005254606.1:c.847_848del | XP_005254663.1:p.Val283SerfsTer5 | |
| XM_006720656.1:c.943_944del | XP_006720719.1:p.Val315SerfsTer5 | |
| XR_931896.1:n.1159_1160del | ||
| XR_932203.1:n.229+645_229+646del | ||
| XR_932204.1:n.222+645_222+646del | ||
| XM_005254606.2:c.847_848del | XP_005254663.1:p.Val283SerfsTer5 | |
| XR_001751524.2:n.230+645_230+646del | ||
| XR_001751525.1:n.230+645_230+646del | ||
| XR_002957762.1:n.230+645_230+646del | ||
| XR_932204.3:n.224+645_224+646del | ||
| NM_000338.3:c.847_848del MANE Select | NP_000329.2:p.Val283SerfsTer5 | |
| NM_001184832.2:c.847_848del | NP_001171761.1:p.Val283SerfsTer5 | |
| NM_001384136.1:c.847_848del | NP_001371065.1:p.Val283SerfsTer5 |