Linked Data
ClinVar Variation Id:
68098
ClinVar RCV Id:
RCV002514294
dbSNP Id:
rs154774639
ExAC:
15:68500523 AG / A
gnomAD v2:
15-68500523-AG-A
gnomAD v3:
15-68208185-AG-A
gnomAD v4:
15-68208185-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208188del , CM000677.2:g.68208188del | GRCh38 |
| NC_000015.9:g.68500526del , CM000677.1:g.68500526del | GRCh37 |
| NC_000015.8:g.66287580del | NCBI36 |
| NG_008764.2:g.54026del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000249806.11:c.890del MANE Select | ENSP00000249806.5:p.Pro297LeufsTer? | |
| ENST00000562767.2:c.84-10558del | ENSP00000456336.1:n.84-10558del | |
| ENST00000565471.6:c.431del | ENSP00000457384.1:p.Pro144LeufsTer? | |
| ENST00000635747.1:c.*793del | ENSP00000490627.1:n.*793del | |
| ENST00000636212.1:c.*560del | ENSP00000489851.1:n.*560del | |
| ENST00000636674.1:n.1992del | ||
| ENST00000636964.1:n.2418del | ||
| ENST00000637054.1:c.198+10350del | ENSP00000490807.1:n.198+10350del | |
| ENST00000637329.1:c.859del | ||
| ENST00000637450.1:c.*544del | ENSP00000490204.1:n.*544del | |
| ENST00000637494.1:c.602del | ENSP00000490057.1:p.Pro201LeufsTer? | |
| ENST00000637823.1:c.715del | ||
| ENST00000637888.1:c.198+10350del | ENSP00000490546.1:n.198+10350del | |
| ENST00000638076.1:c.*493del | ENSP00000490373.1:n.*493del | |
| ENST00000638144.1:n.533del | ||
| ENST00000646164.1:c.39-8505del | ||
| ENST00000249806.9:c.890del | ENSP00000249806.5:p.Pro297LeufsTer? | |
| ENST00000538696.5:c.986del | ENSP00000445770.1:p.Pro329LeufsTer? | |
| ENST00000562767.1:c.84-10558del | ENSP00000456336.1:n.84-10558del | |
| ENST00000565471.5:c.431del | ENSP00000457384.1:p.Pro144LeufsTer? | |
| ENST00000566347.5:c.701del | ENSP00000457783.1:p.Pro234LeufsTer? | |
| ENST00000567060.5:c.*288del | ENSP00000454818.1:n.*288del | |
| NM_017882.2:c.890del | NP_060352.1:p.Pro297LeufsTer? | |
| NM_017882.3:c.890del MANE Select | NP_060352.1:p.Pro297LeufsTer? |