Linked Data
ClinVar Variation Id:
1684751
ClinVar RCV Id:
RCV002247843
dbSNP Id:
rs796052475
gnomAD v4:
14-28767597-GCCGCCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767606_28767611del , CM000676.2:g.28767606_28767611del | GRCh38 |
| NC_000014.8:g.29236812_29236817del , CM000676.1:g.29236812_29236817del | GRCh37 |
| NC_000014.7:g.28306563_28306568del | NCBI36 |
| NG_009367.1:g.5526_5531del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.327_332del | ENSP00000516406.1:p.Pro110_Pro111del | |
| ENST00000313071.7:c.327_332del MANE Select | ENSP00000339004.3:p.Pro110_Pro111del | |
| ENST00000313071.6:c.327_332del | ENSP00000339004.3:p.Pro110_Pro111del | |
| NM_005249.4:c.327_332del | NP_005240.3:p.Pro110_Pro111del | |
| NM_005249.5:c.327_332del MANE Select | NP_005240.3:p.Pro110_Pro111del |