Linked Data
ClinVar Variation Id:
459155
ClinVar RCV Id:
RCV000546563
dbSNP Id:
rs1553177448
gnomAD v4:
1-17024081-G-GGGGAGAAAAGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17024083_17024093dup , CM000663.2:g.17024083_17024093dup | GRCh38 |
| NC_000001.10:g.17350578_17350588dup , CM000663.1:g.17350578_17350588dup | GRCh37 |
| NC_000001.9:g.17223165_17223175dup | NCBI36 |
| NG_012340.1:g.35079_35089dup , LRG_316:g.35079_35089dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.370-18_370-8dup | ENSP00000481376.2:n.370-18_370-8dup | |
| ENST00000491274.6:c.499-18_499-8dup | ENSP00000480482.2:n.499-18_499-8dup | |
| ENST00000375499.8:c.541-18_541-8dup MANE Select | ENSP00000364649.3:n.541-18_541-8dup | |
| ENST00000375499.7:c.541-18_541-8dup | ENSP00000364649.3:n.541-18_541-8dup | |
| ENST00000485515.5:n.475-18_475-8dup | ||
| ENST00000491274.5:c.499-18_499-8dup | ENSP00000480482.1:n.499-18_499-8dup | |
| NM_003000.2:c.541-18_541-8dup , LRG_316t1:c.541-18_541-8dup | NP_002991.2:n.541-18_541-8dup | |
| NM_003000.3:c.541-18_541-8dup MANE Select | NP_002991.2:n.541-18_541-8dup |