Linked Data
ClinVar Variation Id:
55520
ClinVar RCV Id:
RCV000257542
dbSNP Id:
rs397509261
PubMed:
PMID:9760198
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43051081del , CM000679.2:g.43051081del | GRCh38 |
| NC_000017.10:g.41203098del , CM000679.1:g.41203098del | GRCh37 |
| NC_000017.9:g.38456624del | NCBI36 |
| NG_005905.2:g.166904del , LRG_292:g.166904del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.5312del | ENSP00000417241.2:p.Phe1771SerfsTer21 | |
| ENST00000470026.6:c.5315del | ENSP00000419274.2:p.Phe1772SerfsTer21 | |
| ENST00000473961.6:c.5189del | ENSP00000420201.2:p.Phe1730SerfsTer21 | |
| ENST00000476777.6:c.5309del | ENSP00000417554.2:p.Phe1770SerfsTer21 | |
| ENST00000477152.6:c.5237del | ENSP00000419988.2:p.Phe1746SerfsTer21 | |
| ENST00000478531.6:c.2003del | ENSP00000420412.2:p.Phe668SerfsTer21 | |
| ENST00000489037.2:c.5237del | ENSP00000420781.2:p.Phe1746SerfsTer21 | |
| ENST00000493919.6:c.1865del | ENSP00000418819.2:p.Phe622SerfsTer21 | |
| ENST00000494123.6:c.5315del | ENSP00000419103.2:p.Phe1772SerfsTer21 | |
| ENST00000497488.2:c.4427del | ENSP00000418986.2:p.Phe1476SerfsTer21 | |
| ENST00000618469.2:c.5315del | ENSP00000478114.2:p.Phe1772SerfsTer21 | |
| ENST00000634433.2:c.5192del | ENSP00000489431.2:p.Phe1731SerfsTer21 | |
| ENST00000644379.2:c.5381del | ENSP00000496570.2:p.Phe1794SerfsTer21 | |
| ENST00000644555.2:c.1865del | ENSP00000494614.2:p.Phe622SerfsTer21 | |
| ENST00000652672.2:c.5174del | ENSP00000498906.2:p.Phe1725SerfsTer21 | |
| ENST00000484087.6:c.1877del | ENSP00000419481.2:p.Phe626SerfsTer21 | |
| ENST00000357654.9:c.5315del MANE Select | ENSP00000350283.3:p.Phe1772SerfsTer21 | |
| ENST00000471181.7:c.5378del | ENSP00000418960.2:p.Phe1793SerfsTer21 | |
| ENST00000644379.1:c.1702del | ||
| ENST00000352993.7:c.1889del | ENSP00000312236.5:p.Phe630SerfsTer21 | |
| ENST00000357654.7:c.5315del | ENSP00000350283.3:p.Phe1772SerfsTer21 | |
| ENST00000461221.5:c.*5098del | ENSP00000418548.1:n.*5098del | |
| ENST00000468300.5:c.2003del | ENSP00000417148.1:p.Phe668SerfsTer? | |
| ENST00000471181.6:c.5378del | ENSP00000418960.2:p.Phe1793SerfsTer21 | |
| ENST00000491747.6:c.2003del | ENSP00000420705.2:p.Phe668SerfsTer21 | |
| ENST00000493795.5:c.5174del | ENSP00000418775.1:p.Phe1725SerfsTer21 | |
| ENST00000586385.5:c.245del | ENSP00000465818.1:p.Phe82SerfsTer21 | |
| ENST00000591534.5:c.788del | ENSP00000467329.1:p.Phe263SerfsTer21 | |
| ENST00000591849.5:c.-98-890del | ENSP00000465347.1:n.-98-890del | |
| NM_007294.3:c.5315del , LRG_292t1:c.5315del | NP_009225.1:p.Phe1772SerfsTer21 | |
| NM_007297.3:c.5174del | NP_009228.2:p.Phe1725SerfsTer21 | |
| NM_007298.3:c.2003del | NP_009229.2:p.Phe668SerfsTer21 | |
| NM_007299.3:c.2003del | NP_009230.2:p.Phe668SerfsTer? | |
| NM_007300.3:c.5378del | NP_009231.2:p.Phe1793SerfsTer21 | |
| NR_027676.1:n.5451del | ||
| NM_007294.4:c.5315del MANE Select | NP_009225.1:p.Phe1772SerfsTer21 | |
| NM_007297.4:c.5174del | NP_009228.2:p.Phe1725SerfsTer21 | |
| NM_007299.4:c.2003del | NP_009230.2:p.Phe668SerfsTer? | |
| NM_007300.4:c.5378del | NP_009231.2:p.Phe1793SerfsTer21 | |
| NR_027676.2:n.5492del |