Linked Data
ClinVar Variation Id:
977344
ClinVar RCV Id:
RCV001254968
dbSNP Id:
rs763290832
ExAC:
1:100588801 T / TA
gnomAD v2:
1-100588801-T-TA
gnomAD v3:
1-100123245-T-TA
gnomAD v4:
1-100123245-T-TA
COSMIC:
COSM1953085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100123253dup , CM000663.2:g.100123253dup | GRCh38 |
| NC_000001.10:g.100588809dup , CM000663.1:g.100588809dup | GRCh37 |
| NC_000001.9:g.100361397dup | NCBI36 |
| NG_051914.1:g.14850dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287482.6:c.170dup MANE Select | ENSP00000287482.5:p.Leu57PhefsTer3 | |
| ENST00000287482.5:c.170dup | ENSP00000287482.5:p.Leu57PhefsTer3 | |
| ENST00000462159.1:n.311dup | ||
| NM_001304829.1:c.-295-762dup | NP_001291758.1:n.-295-762dup | |
| NM_194292.2:c.170dup | NP_919268.1:p.Leu57PhefsTer3 | |
| XM_017000486.1:c.89dup | XP_016855975.1:p.Leu30PhefsTer3 | |
| NM_194292.3:c.170dup MANE Select | NP_919268.1:p.Leu57PhefsTer3 | |
| NM_001304829.2:c.-295-762dup | NP_001291758.1:n.-295-762dup |