Linked Data
dbSNP Id:
rs1566888503
gnomAD v2:
15-48703136-TA-T
gnomAD v4:
15-48410939-TA-T
MyVariant Identifiers:
chr15:g.48703137del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410940del , CM000677.2:g.48410940del | GRCh38 |
| NC_000015.9:g.48703137del , CM000677.1:g.48703137del | GRCh37 |
| NC_000015.8:g.46490429del | NCBI36 |
| NG_008805.2:g.239849del , LRG_778:g.239849del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1474del | ENSP00000453958.2:n.*1474del | |
| ENST00000682158.1:n.2047del | ||
| ENST00000682170.1:n.2847del | ||
| ENST00000682767.1:n.1963del | ||
| ENST00000316623.10:c.*50del MANE Select | ENSP00000325527.5:n.*50del | |
| ENST00000316623.9:c.*50del | ENSP00000325527.5:n.*50del | |
| ENST00000559133.5:c.4035del | ||
| NM_000138.4:c.*50del , LRG_778t1:c.*50del | NP_000129.3:n.*50del | |
| NM_000138.5:c.*50del MANE Select | NP_000129.3:n.*50del |