Linked Data
dbSNP Id:
rs587776800
ExAC:
1:20304912 CCA / C
gnomAD v2:
1-20304912-CCA-C
gnomAD v3:
1-19978419-CCA-C
gnomAD v4:
1-19978419-CCA-C
PubMed:
PMID:9272153
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19978422_19978423del , CM000663.2:g.19978422_19978423del | GRCh38 |
| NC_000001.10:g.20304915_20304916del , CM000663.1:g.20304915_20304916del | GRCh37 |
| NC_000001.9:g.20177502_20177503del | NCBI36 |
| NG_012928.1:g.7019_7020del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000482011.3:c.144_145del MANE Select | ENSP00000504762.1:p.Cys48TrpfsTer20 | |
| ENST00000400520.8:c.144_145del | ENSP00000383364.3:p.Cys48TrpfsTer20 | |
| ENST00000482011.2:c.144_145del | ENSP00000504762.1:p.Cys48TrpfsTer20 | |
| ENST00000649436.1:c.63_64del | ENSP00000496912.1:p.Cys21TrpfsTer20 | |
| ENST00000375111.7:c.144_145del | ENSP00000364252.3:p.Cys48TrpfsTer20 | |
| ENST00000400520.7:c.144_145del | ENSP00000383364.3:p.Cys48TrpfsTer20 | |
| ENST00000461140.1:n.398_399del | ||
| ENST00000469162.5:n.310_311del | ||
| ENST00000482011.1:n.416_417del | ||
| ENST00000491964.5:n.376_377del | ||
| ENST00000496748.1:n.494_495del | ||
| NM_000300.3:c.144_145del | NP_000291.1:p.Cys48TrpfsTer20 | |
| NM_001161727.1:c.144_145del | NP_001155199.1:p.Cys48TrpfsTer20 | |
| NM_001161728.1:c.144_145del | NP_001155200.1:p.Cys48TrpfsTer20 | |
| NM_001161729.1:c.144_145del | NP_001155201.1:p.Cys48TrpfsTer20 | |
| NM_000300.4:c.144_145del | NP_000291.1:p.Cys48TrpfsTer20 | |
| NM_001161727.2:c.144_145del | NP_001155199.1:p.Cys48TrpfsTer20 | |
| NM_001161728.2:c.144_145del | NP_001155200.1:p.Cys48TrpfsTer20 | |
| NM_001395463.1:c.144_145del MANE Select | NP_001382392.1:p.Cys48TrpfsTer20 |