Identifiers and link-outs to other resources
ClinVar Variation Id:
266410
ClinVar RCV Id:
RCV000257706
dbSNP Id:
rs886040170
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091685_43091695del , CM000679.2:g.43091685_43091695del | GRCh38 |
| NC_000017.10:g.41243702_41243712del , CM000679.1:g.41243702_41243712del | GRCh37 |
| NC_000017.9:g.38497228_38497238del | NCBI36 |
| NG_005905.2:g.126293_126303del , LRG_292:g.126293_126303del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_007294.3:c.3840_3850del , LRG_292t1:c.3840_3850del | NP_009225.1:p.Gln1281ProfsTer2 | |
| NM_007297.3:c.3699_3709del VV | NP_009228.2:p.Gln1234ProfsTer2 | |
| NM_007298.3:c.788-659_788-649del VV | NP_009229.2:p.= | |
| NM_007299.3:c.788-659_788-649del VV | NP_009230.2:p.= | |
| NM_007300.3:c.3840_3850del VV | NP_009231.2:p.Gln1281ProfsTer2 | |
| NR_027676.1:n.3976_3986del | ||
| NM_007294.4:c.3840_3850del VV MANE Preferred | NP_009225.1:p.Gln1281ProfsTer2 | |
| NM_007297.4:c.3699_3709del VV | NP_009228.2:p.Gln1234ProfsTer2 | |
| NM_007299.4:c.788-659_788-649del VV | NP_009230.2:p.= | |
| NM_007300.4:c.3840_3850del VV | NP_009231.2:p.Gln1281ProfsTer2 | |
| NR_027676.2:n.4017_4027del | ||
| ENST00000352993.7:c.671-659_671-649del | ENSP00000312236.5:p.= | |
| ENST00000354071.7:c.3840_3850del | ENSP00000326002.7:p.Gln1281ProfsTer2 | |
| ENST00000357654.7:c.3840_3850del | ENSP00000350283.3:p.Gln1281ProfsTer2 | |
| ENST00000461221.5:c.*3623_*3633del | ENSP00000418548.1:p.= | |
| ENST00000461574.1:n.134_144del | ||
| ENST00000468300.5:c.788-659_788-649del | ENSP00000417148.1:p.= | |
| ENST00000471181.6:c.3840_3850del | ENSP00000418960.2:p.Gln1281ProfsTer2 | |
| ENST00000478531.5:c.785-659_785-649del | ENSP00000420412.1:p.= | |
| ENST00000484087.5:n.410-659_410-649del | ENSP00000419481.1:p.= | |
| ENST00000487825.5:n.413-659_413-649del | ENSP00000418212.1:p.= | |
| ENST00000491747.6:c.788-659_788-649del | ENSP00000420705.2:p.= | |
| ENST00000493795.5:c.3699_3709del | ENSP00000418775.1:p.Gln1234ProfsTer2 | |
| ENST00000493919.5:c.647-659_647-649del | ENSP00000418819.1:p.= | |
| ENST00000586385.5:c.5-27740_5-27730del | ENSP00000465818.1:p.= | |
| ENST00000591534.5:c.-43-17170_-43-17160del | ENSP00000467329.1:p.= | |
| ENST00000591849.5:c.-99+33580_-99+33590del | ENSP00000465347.1:p.= |