Linked Data
ClinVar Variation Id:
481178
dbSNP Id:
rs1555518221
gnomAD v4:
16-68833320-G-GC
PubMed:
PMID:20371349
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68833324dup , CM000678.2:g.68833324dup | GRCh38 |
| NC_000016.9:g.68867227dup , CM000678.1:g.68867227dup | GRCh37 |
| NC_000016.8:g.67424728dup | NCBI36 |
| NG_008021.1:g.101033dup , LRG_301:g.101033dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2474dup MANE Select | ENSP00000261769.4:p.Pro826AlafsTer3 | |
| ENST00000261769.9:c.2474dup | ENSP00000261769.4:p.Pro826AlafsTer3 | |
| ENST00000422392.6:c.2291dup | ENSP00000414946.2:p.Pro765AlafsTer3 | |
| ENST00000562118.1:n.692dup | ||
| ENST00000562836.5:n.2545dup | ||
| ENST00000566510.5:c.*1140dup | ENSP00000458139.1:n.*1140dup | |
| ENST00000566612.5:c.*714dup | ENSP00000454782.1:n.*714dup | |
| ENST00000611625.4:c.2537dup | ENSP00000481063.1:p.Pro847AlafsTer3 | |
| ENST00000612417.4:c.1854-867dup | ENSP00000478360.1:n.1854-867dup | |
| ENST00000621016.4:c.1866-879dup | ENSP00000480664.1:n.1866-879dup | |
| NM_004360.3:c.2474dup , LRG_301t1:c.2474dup | NP_004351.1:p.Pro826AlafsTer3 | |
| XM_011523488.1:c.1739dup | XP_011521790.1:p.Pro581AlafsTer3 | |
| XM_011523489.1:c.1739dup | XP_011521791.1:p.Pro581AlafsTer3 | |
| NM_001317184.1:c.2291dup | NP_001304113.1:p.Pro765AlafsTer3 | |
| NM_001317185.1:c.926dup | NP_001304114.1:p.Pro310AlafsTer3 | |
| NM_001317186.1:c.509dup | NP_001304115.1:p.Pro171AlafsTer3 | |
| NM_004360.4:c.2474dup | NP_004351.1:p.Pro826AlafsTer3 | |
| NM_004360.5:c.2474dup MANE Select | NP_004351.1:p.Pro826AlafsTer3 | |
| NM_001317184.2:c.2291dup | NP_001304113.1:p.Pro765AlafsTer3 | |
| NM_001317185.2:c.926dup | NP_001304114.1:p.Pro310AlafsTer3 | |
| NM_001317186.2:c.509dup | NP_001304115.1:p.Pro171AlafsTer3 |