Linked Data
ClinVar Variation Id:
21686
dbSNP Id:
rs80356646
ExAC:
1:193111228 TGA / T
gnomAD v2:
1-193111228-TGA-T
gnomAD v3:
1-193142098-TGA-T
gnomAD v4:
1-193142098-TGA-T
COSMIC:
COSN23074145
MyVariant Identifiers:
chr1:g.193111246_193111247del (hg19)
chr1:g.193111235_193111236del (hg19)
chr1:g.193111233_193111234del (hg19)
chr1:g.193111229_193111230del (hg19)
chr1:g.193142116_193142117del (hg38)
chr1:g.193142105_193142106del (hg38)
chr1:g.193142103_193142104del (hg38)
chr1:g.193142099_193142100del (hg38)
PubMed:
PMID:20301744
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193142116_193142117del , CM000663.2:g.193142116_193142117del | GRCh38 |
| NC_000001.10:g.193111246_193111247del , CM000663.1:g.193111246_193111247del | GRCh37 |
| NC_000001.9:g.191377869_191377870del | NCBI36 |
| NG_012691.1:g.25159_25160del , LRG_507:g.25159_25160del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.729+50_729+51del MANE Select | ENSP00000356405.4:n.729+50_729+51del | |
| ENST00000635846.1:c.729+50_729+51del | ENSP00000490035.1:n.729+50_729+51del | |
| ENST00000643006.1:c.729+50_729+51del | ENSP00000496633.1:n.729+50_729+51del | |
| ENST00000643784.1:c.*205+50_*205+51del | ENSP00000494944.1:n.*205+50_*205+51del | |
| ENST00000647662.1:n.630+50_630+51del | ||
| ENST00000648071.1:c.*705+50_*705+51del | ENSP00000497513.1:n.*705+50_*705+51del | |
| ENST00000649606.1:n.742+50_742+51del | ||
| ENST00000649895.1:n.947+50_947+51del | ||
| ENST00000650197.1:c.729+50_729+51del | ENSP00000496929.1:n.729+50_729+51del | |
| ENST00000367435.3:c.729+50_729+51del | ENSP00000356405.3:n.729+50_729+51del | |
| NM_024529.4:c.729+50_729+51del , LRG_507t1:c.729+50_729+51del | NP_078805.3:n.729+50_729+51del | |
| XM_006711537.2:c.729+50_729+51del | XP_006711600.1:n.729+50_729+51del | |
| XM_006711537.4:c.729+50_729+51del | XP_006711600.1:n.729+50_729+51del | |
| NM_024529.5:c.729+50_729+51del MANE Select | NP_078805.3:n.729+50_729+51del |