Linked Data
ClinVar Variation Id:
10301
ClinVar RCV Id:
RCV000011014
dbSNP Id:
rs387906460
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154903949del , CM000685.2:g.154903949del | GRCh38 |
| NC_000023.10:g.154132224del , CM000685.1:g.154132224del | GRCh37 |
| NC_000023.9:g.153785418del | NCBI36 |
| NG_011403.1:g.123781del | |
| NG_011403.2:g.123781del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5961del MANE Select | ENSP00000353393.4:p.Glu1988ArgfsTer? | |
| ENST00000360256.8:c.5961del | ENSP00000353393.4:p.Glu1988ArgfsTer? | |
| NM_000132.3:c.5961del | NP_000123.1:p.Glu1988ArgfsTer? | |
| XM_011531126.1:c.5856del | XP_011529428.1:p.Glu1953ArgfsTer? | |
| NM_000132.4:c.5961del MANE Select | NP_000123.1:p.Glu1988ArgfsTer? |