Linked Data
ClinVar Variation Id:
1405964
ClinVar RCV Id:
RCV001915599
dbSNP Id:
rs766768674
gnomAD v3:
17-10639705-GCT-G
gnomAD v4:
17-10639705-GCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10639712_10639713del , CM000679.2:g.10639712_10639713del | GRCh38 |
| NC_000017.10:g.10543029_10543030del , CM000679.1:g.10543029_10543030del | GRCh37 |
| NC_000017.9:g.10483754_10483755del | NCBI36 |
| NG_011537.1:g.22592_22593del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000583535.6:c.2778_2779del MANE Select | ENSP00000464317.1:p.Arg926SerfsTer2 | |
| ENST00000583535.5:c.2778_2779del | ENSP00000464317.1:p.Arg926SerfsTer2 | |
| NM_002470.3:c.2778_2779del | NP_002461.2:p.Arg926SerfsTer2 | |
| XM_011523870.1:c.2778_2779del | XP_011522172.1:p.Arg926SerfsTer2 | |
| XM_011523871.1:c.2778_2779del | XP_011522173.1:p.Arg926SerfsTer2 | |
| XM_011523872.1:c.2778_2779del | XP_011522174.1:p.Arg926SerfsTer2 | |
| XM_011523870.3:c.2778_2779del | XP_011522172.1:p.Arg926SerfsTer2 | |
| XM_011523871.2:c.2778_2779del | XP_011522173.1:p.Arg926SerfsTer2 | |
| NM_002470.4:c.2778_2779del MANE Select | NP_002461.2:p.Arg926SerfsTer2 |