Linked Data
ClinVar Variation Id:
2715280
ClinVar RCV Id:
RCV003553216
dbSNP Id:
rs779771052
ExAC:
16:67976888 CG / C
gnomAD v2:
16-67976888-CG-C
gnomAD v3:
16-67942985-CG-C
gnomAD v4:
16-67942985-CG-C
MyVariant Identifiers:
chr16:g.67976889del (hg19)
chr16:g.67942987del (hg38)
chr16:g.67942986del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942990del , CM000678.2:g.67942990del | GRCh38 |
| NC_000016.9:g.67976893del , CM000678.1:g.67976893del | GRCh37 |
| NC_000016.8:g.66534394del | NCBI36 |
| NG_009778.1:g.6127del | |
| NG_033098.1:g.30709del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.312-10del MANE Select | ENSP00000264005.5:n.312-10del | |
| ENST00000264005.9:c.312-10del | ENSP00000264005.5:n.312-10del | |
| ENST00000570369.5:c.40-10del | ||
| ENST00000570980.1:c.96-10del | ENSP00000464651.1:n.96-10del | |
| ENST00000575277.1:n.90-10del | ||
| ENST00000575467.5:c.*7-10del | ENSP00000460653.1:n.*7-10del | |
| NM_000229.1:c.312-10del | NP_000220.1:n.312-10del | |
| NM_000229.2:c.312-10del MANE Select | NP_000220.1:n.312-10del |