Linked Data
ClinVar Variation Id:
371288
ClinVar RCV Id:
RCV002450947
dbSNP Id:
rs1057517154
gnomAD v3:
15-90804274-T-TA
gnomAD v4:
15-90804274-T-TA
MyVariant Identifiers:
chr15:g.91347505dupA (hg19)
chr15:g.91347504_91347505insA (hg19)
chr15:g.90804275dupA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90804275dup , CM000677.2:g.90804275dup | GRCh38 |
| NC_000015.9:g.91347505dup , CM000677.1:g.91347505dup | GRCh37 |
| NC_000015.8:g.89148509dup | NCBI36 |
| NG_007272.1:g.91904dup , LRG_20:g.91904dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355112.8:c.3667dup MANE Select | ENSP00000347232.3:p.Thr1223AsnfsTer20 | |
| ENST00000560559.2:n.2240dup | ||
| ENST00000648453.1:c.3667dup | ENSP00000497646.1:p.Thr1223AsnfsTer20 | |
| ENST00000680772.1:c.3667dup | ENSP00000506117.1:p.Thr1223AsnfsTer20 | |
| ENST00000681142.1:c.3667dup | ENSP00000506682.1:p.Thr1223AsnfsTer20 | |
| ENST00000355112.7:c.3667dup | ENSP00000347232.3:p.Thr1223AsnfsTer20 | |
| ENST00000558825.5:n.1014dup | ||
| ENST00000559724.5:c.*2591dup | ENSP00000453359.1:n.*2591dup | |
| ENST00000560136.5:n.1693dup | ||
| ENST00000560509.5:c.3359-4862dup | ENSP00000454158.1:n.3359-4862dup | |
| NM_000057.3:c.3667dup | NP_000048.1:p.Thr1223AsnfsTer20 | |
| NM_001287246.1:c.3667dup | NP_001274175.1:p.Thr1223AsnfsTer20 | |
| NM_001287247.1:c.3359-4862dup | NP_001274176.1:n.3359-4862dup | |
| NM_001287248.1:c.2542dup | NP_001274177.1:p.Thr848AsnfsTer20 | |
| XM_006720632.2:c.1705dup | XP_006720695.1:p.Thr569AsnfsTer20 | |
| XM_011521881.1:c.2353dup | XP_011520183.1:p.Thr785AsnfsTer20 | |
| XM_011521881.2:c.2353dup | XP_011520183.1:p.Thr785AsnfsTer20 | |
| NM_000057.4:c.3667dup MANE Select | NP_000048.1:p.Thr1223AsnfsTer20 | |
| NM_001287246.2:c.3667dup | NP_001274175.1:p.Thr1223AsnfsTer20 | |
| NM_001287247.2:c.3359-4862dup | NP_001274176.1:n.3359-4862dup | |
| NM_001287248.2:c.2542dup | NP_001274177.1:p.Thr848AsnfsTer20 |