Linked Data
ClinVar Variation Id:
29920
ClinVar RCV Id:
RCV000022807
dbSNP Id:
rs398122810
gnomAD v2:
1-156830932-CTG-C
gnomAD v3:
1-156861140-CTG-C
gnomAD v4:
1-156861140-CTG-C
PubMed:
PMID:19250380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156861141_156861142del , CM000663.2:g.156861141_156861142del | GRCh38 |
| NC_000001.10:g.156830933_156830934del , CM000663.1:g.156830933_156830934del | GRCh37 |
| NC_000001.9:g.155097557_155097558del | NCBI36 |
| NG_007493.1:g.50392_50393del , LRG_261:g.50392_50393del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674537.2:c.51-3213_51-3212del | ENSP00000502725.1:n.51-3213_51-3212del | |
| ENST00000392302.7:c.51-3213_51-3212del | ENSP00000376120.3:n.51-3213_51-3212del | |
| ENST00000497019.7:c.51-3213_51-3212del | ENSP00000436804.2:n.51-3213_51-3212del | |
| ENST00000524377.7:c.207_208del MANE Select | ENSP00000431418.1:p.Glu70AlafsTer16 | |
| ENST00000674537.1:c.51-3213_51-3212del | ENSP00000502725.1:n.51-3213_51-3212del | |
| ENST00000675461.1:c.207_208del | ENSP00000501668.1:p.Glu70AlafsTer16 | |
| ENST00000358660.3:c.207_208del | ENSP00000351486.3:p.Glu70AlafsTer16 | |
| ENST00000368196.7:c.207_208del | ENSP00000357179.3:p.Glu70AlafsTer16 | |
| ENST00000392302.6:c.123-3213_123-3212del | ENSP00000376120.2:n.123-3213_123-3212del | |
| ENST00000489021.6:n.313-12492_313-12491del | ||
| ENST00000497019.6:c.123-3213_123-3212del | ENSP00000436804.1:n.123-3213_123-3212del | |
| ENST00000524377.5:c.207_208del | ENSP00000431418.1:p.Glu70AlafsTer16 | |
| ENST00000530298.5:n.271-3213_271-3212del | ||
| ENST00000533630.1:n.229_230del | ||
| NM_001007792.1:c.123-3213_123-3212del , LRG_261t1:c.123-3213_123-3212del | NP_001007793.1:n.123-3213_123-3212del | |
| NM_001012331.1:c.207_208del , LRG_261t2:c.207_208del | NP_001012331.1:p.Glu70AlafsTer16 | |
| NM_002529.3:c.207_208del , LRG_261t3:c.207_208del | NP_002520.2:p.Glu70AlafsTer16 | |
| NM_001012331.2:c.207_208del | NP_001012331.1:p.Glu70AlafsTer16 | |
| NM_002529.4:c.207_208del MANE Select | NP_002520.2:p.Glu70AlafsTer16 |