Linked Data
ClinVar Variation Id:
425619
ClinVar RCV Id:
RCV000490747
dbSNP Id:
rs1114167398
PubMed:
PMID:25944380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50188122_50188125del , CM000679.2:g.50188122_50188125del | GRCh38 |
| NC_000017.10:g.48265483_48265486del , CM000679.1:g.48265483_48265486del | GRCh37 |
| NC_000017.9:g.45620482_45620485del | NCBI36 |
| NG_007400.1:g.18516_18519del , LRG_1:g.18516_18519del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3233_3236del MANE Select | ENSP00000225964.6:p.Val1078AlafsTer29 | |
| ENST00000225964.9:c.3233_3236del | ENSP00000225964.5:p.Val1078AlafsTer29 | |
| ENST00000486572.1:n.431_434del | ||
| ENST00000511732.1:n.557_560del | ||
| NM_000088.3:c.3233_3236del , LRG_1t1:c.3233_3236del | NP_000079.2:p.Val1078AlafsTer29 | |
| XM_005257058.3:c.2963_2966del | XP_005257115.2:p.Val988AlafsTer29 | |
| XM_005257059.3:c.2315_2318del | XP_005257116.2:p.Val772AlafsTer29 | |
| XM_011524341.1:c.3035_3038del | XP_011522643.1:p.Val1012AlafsTer29 | |
| XM_005257058.4:c.2963_2966del | XP_005257115.2:p.Val988AlafsTer29 | |
| XM_005257059.4:c.2315_2318del | XP_005257116.2:p.Val772AlafsTer29 | |
| NM_000088.4:c.3233_3236del MANE Select | NP_000079.2:p.Val1078AlafsTer29 |