Linked Data
ClinVar Variation Id:
556819
ClinVar RCV Id:
RCV000672874
dbSNP Id:
rs1555452124
MyVariant Identifiers:
chr16:g.1362958_1362984del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362958_1362984del , CM000678.2:g.1362958_1362984del | GRCh38 |
| NC_000016.9:g.1412959_1412985del , CM000678.1:g.1412959_1412985del | GRCh37 |
| NC_000016.8:g.1352960_1352986del | NCBI36 |
| NG_016985.1:g.16060_16086del | |
| NG_033129.1:g.56729_56755del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.923-39_923-13del | ||
| ENST00000529110.2:c.908-39_908-13del | ENSP00000435349.2:n.908-39_908-13del | |
| ENST00000529957.6:n.882-39_882-13del | ||
| ENST00000683366.1:c.*556-39_*556-13del | ENSP00000507283.1:n.*556-39_*556-13del | |
| ENST00000683887.1:c.872-39_872-13del | ENSP00000506886.1:n.872-39_872-13del | |
| ENST00000684100.1:n.818-39_818-13del | ||
| ENST00000684126.1:n.958-39_958-13del | ||
| ENST00000684688.1:n.1449-39_1449-13del | ||
| ENST00000204679.9:c.824-39_824-13del MANE Select | ENSP00000204679.4:n.824-39_824-13del | |
| ENST00000204679.8:c.824-39_824-13del | ENSP00000204679.4:n.824-39_824-13del | |
| ENST00000527076.1:n.2047-39_2047-13del | ||
| ENST00000527168.5:n.991-39_991-13del | ||
| NM_032520.4:c.824-39_824-13del | NP_115909.1:n.824-39_824-13del | |
| XM_017023782.1:c.872-39_872-13del | XP_016879271.1:n.872-39_872-13del | |
| XM_017023783.1:c.464-39_464-13del | XP_016879272.1:n.464-39_464-13del | |
| NM_032520.5:c.824-39_824-13del MANE Select | NP_115909.1:n.824-39_824-13del |