Linked Data
ClinVar Variation Id:
1198192
ClinVar RCV Id:
RCV001562271
dbSNP Id:
rs5818329
gnomAD v2:
16-81387846-G-GA
gnomAD v3:
16-81354241-G-GA
gnomAD v4:
16-81354241-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81354256dup , CM000678.2:g.81354256dup | GRCh38 |
| NC_000016.9:g.81387861dup , CM000678.1:g.81387861dup | GRCh37 |
| NC_000016.8:g.79945362dup | NCBI36 |
| NG_009007.1:g.44291dup , LRG_242:g.44291dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.168-149dup | ENSP00000498114.1:n.168-149dup | |
| ENST00000648994.2:c.283-149dup MANE Select | ENSP00000497351.1:n.283-149dup | |
| ENST00000650388.1:c.168-2529dup | ENSP00000498081.1:n.168-2529dup | |
| ENST00000674788.1:n.408-149dup | ||
| ENST00000568107.2:c.283-149dup | ENSP00000476795.1:n.283-149dup | |
| NM_022041.3:c.283-149dup , LRG_242t1:c.283-149dup | NP_071324.1:n.283-149dup | |
| XM_017023734.1:c.-357-149dup | XP_016879223.1:n.-357-149dup | |
| NM_001377486.1:c.-357-149dup | NP_001364415.1:n.-357-149dup | |
| NM_022041.4:c.283-149dup MANE Select | NP_071324.1:n.283-149dup |