Identifiers and link-outs to other resources
ClinVar Variation Id:
54989
ClinVar RCV Id:
RCV000257855
dbSNP Id:
rs397509099
User contributed link-outs
PubMed:
PMID:11802209
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091775_43091776del , CM000679.2:g.43091775_43091776del | GRCh38 |
| NC_000017.10:g.41243792_41243793del , CM000679.1:g.41243792_41243793del | GRCh37 |
| NC_000017.9:g.38497318_38497319del | NCBI36 |
| NG_005905.2:g.126209_126210del , LRG_292:g.126209_126210del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_007294.3:c.3756_3757del , LRG_292t1:c.3756_3757del | NP_009225.1:p.Ser1253Ter | |
| NM_007297.3:c.3615_3616del VV | NP_009228.2:p.Ser1206Ter | |
| NM_007298.3:c.788-743_788-742del VV | NP_009229.2:p.= | |
| NM_007299.3:c.788-743_788-742del VV | NP_009230.2:p.= | |
| NM_007300.3:c.3756_3757del VV | NP_009231.2:p.Ser1253Ter | |
| NR_027676.1:n.3892_3893del | ||
| NM_007294.4:c.3756_3757del VV MANE Preferred | NP_009225.1:p.Ser1253Ter | |
| NM_007297.4:c.3615_3616del VV | NP_009228.2:p.Ser1206Ter | |
| NM_007299.4:c.788-743_788-742del VV | NP_009230.2:p.= | |
| NM_007300.4:c.3756_3757del VV | NP_009231.2:p.Ser1253Ter | |
| NR_027676.2:n.3933_3934del | ||
| ENST00000352993.7:c.671-743_671-742del | ENSP00000312236.5:p.= | |
| ENST00000354071.7:c.3756_3757del | ENSP00000326002.7:p.Ser1253Ter | |
| ENST00000357654.7:c.3756_3757del | ENSP00000350283.3:p.Ser1253Ter | |
| ENST00000461221.5:c.*3539_*3540del | ENSP00000418548.1:p.= | |
| ENST00000461574.1:n.50_51del | ||
| ENST00000468300.5:c.788-743_788-742del | ENSP00000417148.1:p.= | |
| ENST00000471181.6:c.3756_3757del | ENSP00000418960.2:p.Ser1253Ter | |
| ENST00000478531.5:c.785-743_785-742del | ENSP00000420412.1:p.= | |
| ENST00000484087.5:n.410-743_410-742del | ENSP00000419481.1:p.= | |
| ENST00000487825.5:n.413-743_413-742del | ENSP00000418212.1:p.= | |
| ENST00000491747.6:c.788-743_788-742del | ENSP00000420705.2:p.= | |
| ENST00000493795.5:c.3615_3616del | ENSP00000418775.1:p.Ser1206Ter | |
| ENST00000493919.5:c.647-743_647-742del | ENSP00000418819.1:p.= | |
| ENST00000586385.5:c.5-27824_5-27823del | ENSP00000465818.1:p.= | |
| ENST00000591534.5:c.-43-17254_-43-17253del | ENSP00000467329.1:p.= | |
| ENST00000591849.5:c.-99+33496_-99+33497del | ENSP00000465347.1:p.= |