Linked Data
dbSNP Id:
rs35068596
gnomAD v2:
16-87936356-C-CA
gnomAD v3:
16-87902750-C-CA
gnomAD v4:
16-87902750-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.87902762dup , CM000678.2:g.87902762dup | GRCh38 |
| NC_000016.9:g.87936368dup , CM000678.1:g.87936368dup | GRCh37 |
| NC_000016.8:g.86493869dup | NCBI36 |
| NG_033227.1:g.38756dup | |
| NG_033227.2:g.38779dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648022.1:c.460-231dup | ENSP00000497934.1:n.460-231dup | |
| ENST00000648177.1:c.341-231dup | ENSP00000497626.1:n.341-231dup | |
| ENST00000649158.1:c.460-231dup | ENSP00000496993.1:n.460-231dup | |
| ENST00000649794.3:c.460-231dup MANE Select | ENSP00000498065.2:n.460-231dup | |
| ENST00000309893.3:c.460-231dup | ENSP00000309649.2:n.460-231dup | |
| NM_001739.1:c.460-231dup | NP_001730.1:n.460-231dup | |
| XM_011523309.1:c.460-231dup | XP_011521611.1:n.460-231dup | |
| XM_011523310.1:c.460-231dup | XP_011521612.1:n.460-231dup | |
| XR_933417.1:n.579-231dup | ||
| NM_001739.2:c.460-231dup MANE Select | NP_001730.1:n.460-231dup | |
| XM_011523309.2:c.460-231dup | XP_011521611.1:n.460-231dup | |
| XM_017023646.1:c.460-231dup | XP_016879135.1:n.460-231dup | |
| XM_024450434.1:c.82-231dup | XP_024306202.1:n.82-231dup | |
| XR_002957839.1:n.585-231dup | ||
| NM_001367225.1:c.460-231dup | NP_001354154.1:n.460-231dup | |
| NR_159798.1:n.539-231dup | ||
| NR_159799.1:n.420-231dup |