Linked Data
ClinVar Variation Id:
558715
ClinVar RCV Id:
RCV000675024
dbSNP Id:
rs764086459
ExAC:
15:91354475 AG / A
gnomAD v2:
15-91354475-AG-A
gnomAD v4:
15-90811245-AG-A
MyVariant Identifiers:
chr15:g.91354476del (hg19)
chr15:g.90811247del (hg38)
chr15:g.90811246del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90811247del , CM000677.2:g.90811247del | GRCh38 |
| NC_000015.9:g.91354477del , CM000677.1:g.91354477del | GRCh37 |
| NC_000015.8:g.89155481del | NCBI36 |
| NG_007272.1:g.98876del , LRG_20:g.98876del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.3917del MANE Select | ENSP00000347232.3:p.Gly1306AlafsTer? | |
| ENST00000560559.2:n.2490del | ||
| ENST00000648453.1:c.3917del | ENSP00000497646.1:p.Gly1306AlafsTer? | |
| ENST00000680772.1:c.3917del | ENSP00000506117.1:p.Gly1306AlafsTer? | |
| ENST00000681142.1:c.3917del | ENSP00000506682.1:p.Gly1306AlafsTer? | |
| ENST00000355112.7:c.3917del | ENSP00000347232.3:p.Gly1306AlafsTer? | |
| ENST00000558825.5:n.1264del | ||
| ENST00000559724.5:c.*2841del | ENSP00000453359.1:n.*2841del | |
| ENST00000560136.5:n.1943del | ||
| ENST00000560509.5:c.3524del | ENSP00000454158.1:p.Gly1175AlafsTer? | |
| ENST00000560821.1:n.337del | ||
| NM_000057.3:c.3917del | NP_000048.1:p.Gly1306AlafsTer? | |
| NM_001287246.1:c.3917del | NP_001274175.1:p.Gly1306AlafsTer? | |
| NM_001287247.1:c.3524del | NP_001274176.1:p.Gly1175AlafsTer? | |
| NM_001287248.1:c.2792del | NP_001274177.1:p.Gly931AlafsTer? | |
| XM_006720632.2:c.1955del | XP_006720695.1:p.Gly652AlafsTer? | |
| XM_011521881.1:c.2603del | XP_011520183.1:p.Gly868AlafsTer? | |
| XM_011521881.2:c.2603del | XP_011520183.1:p.Gly868AlafsTer? | |
| NM_000057.4:c.3917del MANE Select | NP_000048.1:p.Gly1306AlafsTer? | |
| NM_001287246.2:c.3917del | NP_001274175.1:p.Gly1306AlafsTer? | |
| NM_001287247.2:c.3524del | NP_001274176.1:p.Gly1175AlafsTer? | |
| NM_001287248.2:c.2792del | NP_001274177.1:p.Gly931AlafsTer? |