Linked Data
dbSNP Id:
rs1443194929
gnomAD v2:
16-731383-C-CT
gnomAD v3:
16-681383-C-CT
gnomAD v4:
16-681383-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.681384dup , CM000678.2:g.681384dup | GRCh38 |
| NC_000016.9:g.731384dup , CM000678.1:g.731384dup | GRCh37 |
| NC_000016.8:g.671385dup | NCBI36 |
| NG_034141.1:g.6274dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219548.9:c.358+34dup (STUB1) MANE Select | ENSP00000219548.4:n.358+34dup | |
| ENST00000219548.8:c.358+34dup (STUB1) | ENSP00000219548.4:n.358+34dup | |
| ENST00000563505.5:n.454+34dup (STUB1) | ||
| ENST00000564370.5:c.142+34dup (STUB1) | ENSP00000456875.1:n.142+34dup | |
| ENST00000565677.5:c.142+34dup (STUB1) | ENSP00000457228.1:n.142+34dup | |
| ENST00000566181.2:n.127+34dup (STUB1) | ||
| ENST00000566408.5:c.75+34dup (STUB1) | ||
| ENST00000567173.5:c.301+34dup (STUB1) | ENSP00000456591.1:n.301+34dup | |
| ENST00000567790.1:n.422dup (STUB1) | ||
| ENST00000569248.5:n.932+34dup (STUB1) | ||
| ENST00000620831.4:c.-50+38081dup (MSLN) | ENSP00000482893.1:n.-50+38081dup | |
| NM_001293197.1:c.142+34dup (STUB1) | NP_001280126.1:n.142+34dup | |
| NM_005861.3:c.358+34dup (STUB1) | NP_005852.2:n.358+34dup | |
| NM_005861.4:c.358+34dup (STUB1) MANE Select | NP_005852.2:n.358+34dup | |
| NM_001293197.2:c.142+34dup (STUB1) | NP_001280126.1:n.142+34dup |