Linked Data
ClinVar Variation Id:
21284
ClinVar RCV Id:
RCV000020447
dbSNP Id:
rs80356498
PubMed:
PMID:20301736
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58136054_58136056del , CM000665.2:g.58136054_58136056del | GRCh38 |
| NC_000003.11:g.58121781_58121783del , CM000665.1:g.58121781_58121783del | GRCh37 |
| NC_000003.10:g.58096821_58096823del | NCBI36 |
| NG_012801.1:g.132655_132657del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682297.1:n.171_173del | ||
| ENST00000682868.1:n.6789_6791del | ||
| ENST00000682871.1:c.4840_4842del | ENSP00000507805.1:p.Asp1614del | |
| ENST00000684506.1:c.*3372_*3374del | ENSP00000507728.1:n.*3372_*3374del | |
| ENST00000684607.1:c.4840_4842del | ENSP00000508224.1:p.Asp1614del | |
| ENST00000295956.9:c.4747_4749del MANE Select | ENSP00000295956.5:p.Asp1583del | |
| ENST00000295956.8:c.4747_4749del | ENSP00000295956.4:p.Asp1583del | |
| ENST00000358537.7:c.4747_4749del | ENSP00000351339.3:p.Asp1583del | |
| ENST00000429972.6:c.4747_4749del | ENSP00000415599.2:p.Asp1583del | |
| ENST00000481470.5:n.1087_1089del | ||
| ENST00000490882.5:c.4840_4842del | ENSP00000420213.1:p.Asp1614del | |
| ENST00000493452.5:c.4240_4242del | ENSP00000418510.1:p.Asp1414del | |
| NM_001164317.1:c.4840_4842del | NP_001157789.1:p.Asp1614del | |
| NM_001164318.1:c.4747_4749del | NP_001157790.1:p.Asp1583del | |
| NM_001164319.1:c.4747_4749del | NP_001157791.1:p.Asp1583del | |
| NM_001457.3:c.4747_4749del | NP_001448.2:p.Asp1583del | |
| XM_005264977.1:c.4840_4842del | XP_005265034.1:p.Asp1614del | |
| XM_005264978.1:c.4840_4842del | XP_005265035.1:p.Asp1614del | |
| XM_005264981.1:c.4840_4842del | XP_005265038.1:p.Asp1614del | |
| XR_940396.1:n.4985_4987del | ||
| XM_005264978.2:c.4840_4842del | XP_005265035.1:p.Asp1614del | |
| XR_001740065.1:n.4985_4987del | ||
| XR_940396.2:n.4985_4987del | ||
| NM_001164317.2:c.4840_4842del | NP_001157789.1:p.Asp1614del | |
| NM_001164318.2:c.4747_4749del | NP_001157790.1:p.Asp1583del | |
| NM_001164319.2:c.4747_4749del | NP_001157791.1:p.Asp1583del | |
| NM_001457.4:c.4747_4749del MANE Select | NP_001448.2:p.Asp1583del |