Linked Data
dbSNP Id:
rs1567164996
gnomAD v2:
16-226931-GT-G
gnomAD v4:
16-176932-GT-G
MyVariant Identifiers:
chr16:g.226932del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176934del , CM000678.2:g.176934del | GRCh38 |
| NC_000016.9:g.226933del , CM000678.1:g.226933del | GRCh37 |
| NC_000016.8:g.166933del | NCBI36 |
| NG_000006.1:g.37797del | |
| NG_059186.1:g.5284del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.101del MANE Select | ENSP00000322421.5:p.Phe34SerfsTer16 | |
| ENST00000397797.1:c.5del | ENSP00000380899.1:p.Phe2SerfsTer16 | |
| ENST00000472694.1:n.237del | ||
| ENST00000487791.1:n.70del | ||
| NM_000558.4:c.101del | NP_000549.1:p.Phe34SerfsTer16 | |
| NM_000558.5:c.101del MANE Select | NP_000549.1:p.Phe34SerfsTer16 |