Linked Data
ClinVar Variation Id:
238543
ClinVar RCV Id:
RCV000231435
dbSNP Id:
rs878854248
gnomAD v2:
10-112404346-C-CGCCGCCGCCCCA
gnomAD v4:
10-110644588-C-CGCCGCCGCCCCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110644592_110644603dup , CM000672.2:g.110644592_110644603dup | GRCh38 |
| NC_000010.10:g.112404350_112404361dup , CM000672.1:g.112404350_112404361dup | GRCh37 |
| NC_000010.9:g.112394340_112394351dup | NCBI36 |
| NG_021177.1:g.5196_5207dup , LRG_382:g.5196_5207dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369519.4:c.138_149dup MANE Select | ENSP00000358532.3:p.Pro50_Pro51insProProG... | |
| ENST00000369519.3:c.138_149dup | ENSP00000358532.3:p.Pro50_Pro51insProProG... | |
| NM_001134363.2:c.138_149dup | NP_001127835.2:p.Pro50_Pro51insProProGlnP... | |
| XM_017016103.2:c.26+1152_26+1163dup | XP_016871592.1:n.26+1152_26+1163dup | |
| NM_001134363.3:c.138_149dup MANE Select | NP_001127835.2:p.Pro50_Pro51insProProGlnP... |