Linked Data
ClinVar Variation Id:
553608
ClinVar RCV Id:
RCV000669091
dbSNP Id:
rs1555452112
MyVariant Identifiers:
chr16:g.1362897_1362899del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362897_1362899del , CM000678.2:g.1362897_1362899del | GRCh38 |
| NC_000016.9:g.1412898_1412900del , CM000678.1:g.1412898_1412900del | GRCh37 |
| NC_000016.8:g.1352899_1352901del | NCBI36 |
| NG_016985.1:g.15999_16001del | |
| NG_033129.1:g.56807_56809del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.913_915del | ||
| ENST00000529110.2:c.898_900del | ENSP00000435349.2:p.Arg300del | |
| ENST00000529957.6:n.872_874del | ||
| ENST00000683366.1:c.*546_*548del | ENSP00000507283.1:n.*546_*548del | |
| ENST00000683887.1:c.862_864del | ENSP00000506886.1:p.Arg288del | |
| ENST00000684100.1:n.808_810del | ||
| ENST00000684126.1:n.948_950del | ||
| ENST00000684688.1:n.1439_1441del | ||
| ENST00000204679.9:c.814_816del MANE Select | ENSP00000204679.4:p.Arg272del | |
| ENST00000204679.8:c.814_816del | ENSP00000204679.4:p.Arg272del | |
| ENST00000527076.1:n.2037_2039del | ||
| ENST00000527168.5:n.981_983del | ||
| ENST00000529957.5:n.913_915del | ||
| NM_032520.4:c.814_816del | NP_115909.1:p.Arg272del | |
| XM_017023782.1:c.862_864del | XP_016879271.1:p.Arg288del | |
| XM_017023783.1:c.454_456del | XP_016879272.1:p.Arg152del | |
| NM_032520.5:c.814_816del MANE Select | NP_115909.1:p.Arg272del |