Linked Data
ClinVar Variation Id:
4004
dbSNP Id:
rs387906314
gnomAD v2:
1-19228996-GC-G
gnomAD v3:
1-18902502-GC-G
gnomAD v4:
1-18902502-GC-G
PubMed:
PMID:9700195
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.18902503del , CM000663.2:g.18902503del | GRCh38 |
| NC_000001.10:g.19228997del , CM000663.1:g.19228997del | GRCh37 |
| NC_000001.9:g.19101584del | NCBI36 |
| NG_012283.1:g.5297del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375341.8:c.21del MANE Select | ENSP00000364490.3:p.Leu8SerfsTer23 | |
| ENST00000290597.9:c.21del | ENSP00000290597.5:p.Leu8SerfsTer23 | |
| ENST00000375341.7:c.21del | ENSP00000364490.3:p.Leu8SerfsTer23 | |
| ENST00000432718.1:c.21del | ENSP00000393209.1:p.Leu8SerfsTer23 | |
| ENST00000494072.3:c.911+6036del | ||
| ENST00000538839.5:c.21del | ENSP00000446071.1:p.Leu8SerfsTer23 | |
| NM_003748.3:c.21del | NP_003739.2:p.Leu8SerfsTer23 | |
| NM_170726.2:c.21del | NP_733844.1:p.Leu8SerfsTer23 | |
| XM_011542352.1:c.21del | XP_011540654.1:p.Leu8SerfsTer23 | |
| XM_011542353.1:c.21del | XP_011540655.1:p.Leu8SerfsTer23 | |
| XR_946786.1:n.78del | ||
| NM_001319218.1:c.21del | NP_001306147.1:p.Leu8SerfsTer23 | |
| XR_001737510.1:n.78del | ||
| NM_003748.4:c.21del MANE Select | NP_003739.2:p.Leu8SerfsTer23 | |
| NM_170726.3:c.21del | NP_733844.1:p.Leu8SerfsTer23 | |
| NM_001319218.2:c.21del | NP_001306147.1:p.Leu8SerfsTer23 |