Linked Data
ClinVar Variation Id:
359528
ClinVar RCV Id:
RCV000276163
dbSNP Id:
rs138718602
ExAC:
7:16128995 G / GTACA
gnomAD v2:
7-16128995-G-GTACA
gnomAD v3:
7-16089370-G-GTACA
gnomAD v4:
7-16089370-G-GTACA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.16089373_16089376dup , CM000669.2:g.16089373_16089376dup | GRCh38 |
| NC_000007.13:g.16128998_16129001dup , CM000669.1:g.16128998_16129001dup | GRCh37 |
| NC_000007.12:g.16095523_16095526dup | NCBI36 |
| NG_032690.1:g.336949_336952dup | |
| NG_032690.2:g.336949_336952dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407010.7:c.*2321_*2324dup MANE Select | ENSP00000385478.2:n.*2321_*2324dup | |
| ENST00000407010.6:c.3677_3680dup | ENSP00000385478.2:n.3677_3680dup | |
| NM_001101417.3:c.3527_3530dup | NP_001094887.1:n.3527_3530dup | |
| NM_001101426.3:c.3677_3680dup | NP_001094896.1:n.3677_3680dup | |
| XM_011515498.1:c.1251+126692_1251+126695dup | XP_011513800.1:n.1251+126692_1251+126695dup | |
| NM_001101426.4:c.*2321_*2324dup MANE Select | NP_001094896.1:n.*2321_*2324dup | |
| NM_001101417.4:c.*2321_*2324dup | NP_001094887.1:n.*2321_*2324dup | |
| NM_001368197.1:c.*2321_*2324dup | NP_001355126.1:n.*2321_*2324dup | |
| NR_160656.1:n.3742_3745dup |