Linked Data
ClinVar Variation Id:
66670
ClinVar RCV Id:
RCV000057112
dbSNP Id:
rs267607676
gnomAD v4:
8-24954323-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24954327dup , CM000670.2:g.24954327dup | GRCh38 |
| NC_000008.10:g.24811841dup , CM000670.1:g.24811841dup | GRCh37 |
| NC_000008.9:g.24867758dup | NCBI36 |
| NG_008492.1:g.7294dup , LRG_259:g.7294dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.1045-19dup MANE Select | ENSP00000482169.2:n.1045-19dup | |
| ENST00000610854.1:c.1045-19dup | ENSP00000482169.1:n.1045-19dup | |
| ENST00000619417.1:c.766-19dup | ENSP00000483690.1:n.766-19dup | |
| NM_006158.4:c.1045-19dup , LRG_259t1:c.1045-19dup | NP_006149.2:n.1045-19dup | |
| NM_006158.5:c.1045-19dup MANE Select | NP_006149.2:n.1045-19dup |