Identifiers and link-outs to other resources
ClinVar Variation Id:
266137
ClinVar RCV Id:
RCV000256546
dbSNP Id:
rs886039927
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43094428del , CM000679.2:g.43094428del | GRCh38 |
| NC_000017.10:g.41246445del , CM000679.1:g.41246445del | GRCh37 |
| NC_000017.9:g.38499971del | NCBI36 |
| NG_005905.2:g.123557del , LRG_292:g.123557del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_007294.3:c.1104del , LRG_292t1:c.1104del | NP_009225.1:p.Asp369MetfsTer5 | |
| NM_007297.3:c.963del VV | NP_009228.2:p.Asp322MetfsTer5 | |
| NM_007298.3:c.787+317del VV | NP_009229.2:p.= | |
| NM_007299.3:c.787+317del VV | NP_009230.2:p.= | |
| NM_007300.3:c.1104del VV | NP_009231.2:p.Asp369MetfsTer5 | |
| NR_027676.1:n.1240del | ||
| NM_007294.4:c.1104del VV MANE Preferred | NP_009225.1:p.Asp369MetfsTer5 | |
| NM_007297.4:c.963del VV | NP_009228.2:p.Asp322MetfsTer5 | |
| NM_007299.4:c.787+317del VV | NP_009230.2:p.= | |
| NM_007300.4:c.1104del VV | NP_009231.2:p.Asp369MetfsTer5 | |
| NR_027676.2:n.1281del | ||
| ENST00000352993.7:c.670+1419del | ENSP00000312236.5:p.= | |
| ENST00000354071.7:c.1104del | ENSP00000326002.7:p.Asp369MetfsTer5 | |
| ENST00000357654.7:c.1104del | ENSP00000350283.3:p.Asp369MetfsTer5 | |
| ENST00000412061.3:n.455del | ||
| ENST00000461221.5:c.*887del | ENSP00000418548.1:p.= | |
| ENST00000468300.5:c.787+317del | ENSP00000417148.1:p.= | |
| ENST00000470026.5:c.1104del | ENSP00000419274.1:p.Asp369MetfsTer5 | |
| ENST00000471181.6:c.1104del | ENSP00000418960.2:p.Asp369MetfsTer5 | |
| ENST00000473961.5:n.701del | ||
| ENST00000477152.5:c.1026del | ENSP00000419988.1:p.Asp343MetfsTer5 | |
| ENST00000478531.5:c.784+317del | ENSP00000420412.1:p.= | |
| ENST00000484087.5:n.409+317del | ENSP00000419481.1:p.= | |
| ENST00000487825.5:n.412+317del | ENSP00000418212.1:p.= | |
| ENST00000491747.6:c.787+317del | ENSP00000420705.2:p.= | |
| ENST00000492859.5:c.*1040del | ENSP00000420253.1:p.= | |
| ENST00000493795.5:c.963del | ENSP00000418775.1:p.Asp322MetfsTer5 | |
| ENST00000493919.5:c.646+317del | ENSP00000418819.1:p.= | |
| ENST00000494123.5:c.1104del | ENSP00000419103.1:p.Asp369MetfsTer5 | |
| ENST00000497488.1:c.216del | ENSP00000418986.1:p.Asp73MetfsTer5 | |
| ENST00000586385.5:c.5-30476del | ENSP00000465818.1:p.= | |
| ENST00000591534.5:c.-43-19906del | ENSP00000467329.1:p.= | |
| ENST00000591849.5:c.-99+30844del | ENSP00000465347.1:p.= | |
| ENST00000634433.1:c.981del | ENSP00000489431.1:p.Asp328MetfsTer5 |