Linked Data
ClinVar Variation Id:
756691
ClinVar RCV Id:
RCV001483393
dbSNP Id:
rs1597552613
gnomAD v4:
15-48472684-CAGAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48472690_48472693del , CM000677.2:g.48472690_48472693del | GRCh38 |
| NC_000015.9:g.48764887_48764890del , CM000677.1:g.48764887_48764890del | GRCh37 |
| NC_000015.8:g.46552179_46552182del | NCBI36 |
| NG_008805.2:g.178101_178104del , LRG_778:g.178101_178104del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4211-12_4211-9del | ENSP00000453958.2:n.4211-12_4211-9del | |
| ENST00000674301.2:c.4211-12_4211-9del | ENSP00000501333.2:n.4211-12_4211-9del | |
| ENST00000683268.1:n.166_169del | ||
| ENST00000684448.1:n.2885-12_2885-9del | ||
| ENST00000316623.10:c.4211-12_4211-9del MANE Select | ENSP00000325527.5:n.4211-12_4211-9del | |
| ENST00000316623.9:c.4211-12_4211-9del | ENSP00000325527.5:n.4211-12_4211-9del | |
| ENST00000537463.6:c.883-12_883-9del | ENSP00000440294.2:n.883-12_883-9del | |
| NM_000138.4:c.4211-12_4211-9del , LRG_778t1:c.4211-12_4211-9del | NP_000129.3:n.4211-12_4211-9del | |
| NM_000138.5:c.4211-12_4211-9del MANE Select | NP_000129.3:n.4211-12_4211-9del |