Linked Data
ClinVar Variation Id:
299929
dbSNP Id:
rs886047008
gnomAD v2:
10-43624990-TG-T
gnomAD v3:
10-43129542-TG-T
gnomAD v4:
10-43129542-TG-T
MyVariant Identifiers:
chr10:g.43624995del (hg19)
chr10:g.43624991del (hg19)
chr10:g.43129547del (hg38)
chr10:g.43129543del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43129547del , CM000672.2:g.43129547del | GRCh38 |
| NC_000010.10:g.43624995del , CM000672.1:g.43624995del | GRCh37 |
| NC_000010.9:g.42945001del | NCBI36 |
| NG_007489.1:g.57479del , LRG_518:g.57479del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.*2793del | ENSP00000480088.2:n.*2793del | |
| ENST00000683007.1:n.5586del | ||
| ENST00000355710.8:c.*1278del MANE Select | ENSP00000347942.3:n.*1278del | |
| ENST00000355710.7:c.*1278del | ENSP00000347942.3:n.*1278del | |
| ENST00000615310.4:c.*1972del | ENSP00000480088.1:n.*1972del | |
| NM_020975.4:c.*1278del , LRG_518t1:c.*1278del | NP_066124.1:n.*1278del | |
| XM_011540027.1:c.*46del | XP_011538329.1:n.*46del | |
| NM_020975.5:c.*1278del | NP_066124.1:n.*1278del | |
| NM_020975.6:c.*1278del MANE Select | NP_066124.1:n.*1278del |