Linked Data
ClinVar Variation Id:
42088
dbSNP Id:
rs367543021
gnomAD v2:
15-91347564-T-TA
gnomAD v3:
15-90804334-T-TA
gnomAD v4:
15-90804334-T-TA
MyVariant Identifiers:
chr15:g.91347565dupA (hg19)
chr15:g.91347564_91347565insA (hg19)
chr15:g.90804335dupA (hg38)
PubMed:
PMID:20301572
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90804335dup , CM000677.2:g.90804335dup | GRCh38 |
| NC_000015.9:g.91347565dup , CM000677.1:g.91347565dup | GRCh37 |
| NC_000015.8:g.89148569dup | NCBI36 |
| NG_007272.1:g.91964dup , LRG_20:g.91964dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355112.8:c.3727dup MANE Select | ENSP00000347232.3:p.Thr1243AsnfsTer14 | |
| ENST00000560559.2:n.2300dup | ||
| ENST00000648453.1:c.3727dup | ENSP00000497646.1:p.Thr1243AsnfsTer14 | |
| ENST00000680772.1:c.3727dup | ENSP00000506117.1:p.Thr1243AsnfsTer14 | |
| ENST00000681142.1:c.3727dup | ENSP00000506682.1:p.Thr1243AsnfsTer14 | |
| ENST00000355112.7:c.3727dup | ENSP00000347232.3:p.Thr1243AsnfsTer14 | |
| ENST00000558825.5:n.1074dup | ||
| ENST00000559724.5:c.*2651dup | ENSP00000453359.1:n.*2651dup | |
| ENST00000560136.5:n.1753dup | ||
| ENST00000560509.5:c.3359-4802dup | ENSP00000454158.1:n.3359-4802dup | |
| NM_000057.3:c.3727dup | NP_000048.1:p.Thr1243AsnfsTer14 | |
| NM_001287246.1:c.3727dup | NP_001274175.1:p.Thr1243AsnfsTer14 | |
| NM_001287247.1:c.3359-4802dup | NP_001274176.1:n.3359-4802dup | |
| NM_001287248.1:c.2602dup | NP_001274177.1:p.Thr868AsnfsTer14 | |
| XM_006720632.2:c.1765dup | XP_006720695.1:p.Thr589AsnfsTer14 | |
| XM_011521881.1:c.2413dup | XP_011520183.1:p.Thr805AsnfsTer14 | |
| XM_011521881.2:c.2413dup | XP_011520183.1:p.Thr805AsnfsTer14 | |
| NM_000057.4:c.3727dup MANE Select | NP_000048.1:p.Thr1243AsnfsTer14 | |
| NM_001287246.2:c.3727dup | NP_001274175.1:p.Thr1243AsnfsTer14 | |
| NM_001287247.2:c.3359-4802dup | NP_001274176.1:n.3359-4802dup | |
| NM_001287248.2:c.2602dup | NP_001274177.1:p.Thr868AsnfsTer14 |