Linked Data
ClinVar Variation Id:
55170
ClinVar RCV Id:
RCV000257580
dbSNP Id:
rs397509163
PubMed:
PMID:21318380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43082429_43082430del , CM000679.2:g.43082429_43082430del | GRCh38 |
| NC_000017.10:g.41234446_41234447del , CM000679.1:g.41234446_41234447del | GRCh37 |
| NC_000017.9:g.38487972_38487973del | NCBI36 |
| NG_005905.2:g.135554_135555del , LRG_292:g.135554_135555del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4331_4332del | ENSP00000417241.2:p.Asn1444ThrfsTer16 | |
| ENST00000470026.6:c.4331_4332del | ENSP00000419274.2:p.Asn1444ThrfsTer17 | |
| ENST00000473961.6:c.4205_4206del | ENSP00000420201.2:p.Asn1402ThrfsTer17 | |
| ENST00000476777.6:c.4325_4326del | ENSP00000417554.2:p.Asn1442ThrfsTer17 | |
| ENST00000477152.6:c.4253_4254del | ENSP00000419988.2:p.Asn1418ThrfsTer17 | |
| ENST00000478531.6:c.1019_1020del | ENSP00000420412.2:p.Asn340ThrfsTer17 | |
| ENST00000489037.2:c.4253_4254del | ENSP00000420781.2:p.Asn1418ThrfsTer17 | |
| ENST00000493919.6:c.881_882del | ENSP00000418819.2:p.Asn294ThrfsTer17 | |
| ENST00000494123.6:c.4331_4332del | ENSP00000419103.2:p.Asn1444ThrfsTer17 | |
| ENST00000497488.2:c.3443_3444del | ENSP00000418986.2:p.Asn1148ThrfsTer17 | |
| ENST00000618469.2:c.4331_4332del | ENSP00000478114.2:p.Asn1444ThrfsTer17 | |
| ENST00000634433.2:c.4208_4209del | ENSP00000489431.2:p.Asn1403ThrfsTer17 | |
| ENST00000644379.2:c.4331_4332del | ENSP00000496570.2:p.Asn1444ThrfsTer23 | |
| ENST00000644555.2:c.881_882del | ENSP00000494614.2:p.Asn294ThrfsTer17 | |
| ENST00000652672.2:c.4190_4191del | ENSP00000498906.2:p.Asn1397ThrfsTer17 | |
| ENST00000484087.6:c.896_897del | ENSP00000419481.2:p.Asn299ThrfsTer16 | |
| ENST00000700182.1:c.941_942del | ENSP00000514849.1:p.Asn314ThrfsTer16 | |
| ENST00000357654.9:c.4331_4332del MANE Select | ENSP00000350283.3:p.Asn1444ThrfsTer17 | |
| ENST00000471181.7:c.4331_4332del | ENSP00000418960.2:p.Asn1444ThrfsTer23 | |
| ENST00000644379.1:c.652_653del | ||
| ENST00000352993.7:c.905_906del | ENSP00000312236.5:p.Asn302ThrfsTer17 | |
| ENST00000357654.7:c.4331_4332del | ENSP00000350283.3:p.Asn1444ThrfsTer17 | |
| ENST00000461221.5:c.*4114_*4115del | ENSP00000418548.1:n.*4114_*4115del | |
| ENST00000461574.1:c.625_626del | ||
| ENST00000468300.5:c.1022_1023del | ENSP00000417148.1:p.Asn341ThrfsTer16 | |
| ENST00000471181.6:c.4331_4332del | ENSP00000418960.2:p.Asn1444ThrfsTer23 | |
| ENST00000478531.5:c.1019_1020del | ENSP00000420412.1:p.Asn340ThrfsTer17 | |
| ENST00000484087.5:c.644_645del | ENSP00000419481.1:p.Asn215ThrfsTer17 | |
| ENST00000487825.5:c.647_648del | ENSP00000418212.1:p.Asn216ThrfsTer17 | |
| ENST00000491747.6:c.1022_1023del | ENSP00000420705.2:p.Asn341ThrfsTer16 | |
| ENST00000493795.5:c.4190_4191del | ENSP00000418775.1:p.Asn1397ThrfsTer17 | |
| ENST00000493919.5:c.881_882del | ENSP00000418819.1:p.Asn294ThrfsTer17 | |
| ENST00000586385.5:c.5-18479_5-18478del | ENSP00000465818.1:n.5-18479_5-18478del | |
| ENST00000591534.5:c.-43-7909_-43-7908del | ENSP00000467329.1:n.-43-7909_-43-7908del | |
| ENST00000591849.5:c.-98-32240_-98-32239del | ENSP00000465347.1:n.-98-32240_-98-32239del | |
| ENST00000621897.1:n.225_226del | ||
| NM_007294.3:c.4331_4332del , LRG_292t1:c.4331_4332del | NP_009225.1:p.Asn1444ThrfsTer17 | |
| NM_007297.3:c.4190_4191del | NP_009228.2:p.Asn1397ThrfsTer17 | |
| NM_007298.3:c.1022_1023del | NP_009229.2:p.Asn341ThrfsTer16 | |
| NM_007299.3:c.1022_1023del | NP_009230.2:p.Asn341ThrfsTer16 | |
| NM_007300.3:c.4331_4332del | NP_009231.2:p.Asn1444ThrfsTer23 | |
| NR_027676.1:n.4467_4468del | ||
| NM_007294.4:c.4331_4332del MANE Select | NP_009225.1:p.Asn1444ThrfsTer17 | |
| NM_007297.4:c.4190_4191del | NP_009228.2:p.Asn1397ThrfsTer17 | |
| NM_007299.4:c.1022_1023del | NP_009230.2:p.Asn341ThrfsTer16 | |
| NM_007300.4:c.4331_4332del | NP_009231.2:p.Asn1444ThrfsTer23 | |
| NR_027676.2:n.4508_4509del |