Linked Data
ClinVar Variation Id:
419081
ClinVar RCV Id:
RCV000482263
dbSNP Id:
rs1064793629
gnomAD v2:
11-124791304-CG-C
gnomAD v4:
11-124921408-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124921412del , CM000673.2:g.124921412del | GRCh38 |
| NC_000011.9:g.124791308del , CM000673.1:g.124791308del | GRCh37 |
| NC_000011.8:g.124296518del | NCBI36 |
| NG_029603.1:g.20004del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703807.1:c.1136del | ENSP00000515485.1:p.Pro379ArgfsTer? | |
| ENST00000298251.5:c.980del MANE Select | ENSP00000298251.4:p.Pro327ArgfsTer? | |
| ENST00000298251.4:c.980del | ENSP00000298251.4:p.Pro327ArgfsTer? | |
| NM_152722.4:c.980del | NP_689935.2:p.Pro327ArgfsTer? | |
| XM_005271449.1:c.977del | XP_005271506.1:p.Pro326ArgfsTer? | |
| XM_006718786.1:c.1001del | XP_006718849.1:p.Pro334ArgfsTer? | |
| XM_011542669.1:c.998del | XP_011540971.1:p.Pro333ArgfsTer? | |
| XM_005271449.2:c.977del | XP_005271506.1:p.Pro326ArgfsTer? | |
| XM_017017361.1:c.1136del | XP_016872850.1:p.Pro379ArgfsTer? | |
| XR_001748429.2:n.325-21988del | ||
| NM_152722.5:c.980del MANE Select | NP_689935.2:p.Pro327ArgfsTer? |