Linked Data
ClinVar Variation Id:
216991
ClinVar RCV Id:
RCV000195884
dbSNP Id:
rs863224913
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21328424del , CM000676.2:g.21328424del | GRCh38 |
| NC_000014.8:g.21796583del , CM000676.1:g.21796583del | GRCh37 |
| NC_000014.7:g.20866423del | NCBI36 |
| NG_008933.1:g.45448del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400017.7:c.2896del | ||
| ENST00000382933.8:c.874del | ||
| ENST00000400017.6:c.2896del | ||
| ENST00000553927.1:n.1828del | ||
| ENST00000555322.5:c.1323del | ||
| ENST00000555489.5:c.1089del | ||
| ENST00000555587.5:c.1321del | ||
| ENST00000556336.5:c.1867del | ||
| ENST00000557771.5:c.2782del | ||
| NM_020366.3:c.2896del | ||
| XM_005267879.2:c.1822del | ||
| XM_005267880.2:c.1789del | ||
| XM_005267881.2:c.1270del | ||
| XM_011536978.1:c.1822del | ||
| XM_011536979.1:c.1606del | ||
| XM_011536980.1:c.1477del | ||
| XM_011536981.1:c.1327del | ||
| XM_011536982.1:c.982del | ||
| XM_011536983.1:c.2863del | ||
| XM_005267881.3:c.1270del | ||
| XM_017021473.1:c.1327del | ||
| XM_024449663.1:c.1822del | ||
| XM_024449664.1:c.1327del | ||
| XM_024449665.1:c.982del | ||
| XM_024449666.1:c.982del | ||
| NM_001377523.1:c.874del | ||
| NM_001377948.1:c.1822del | ||
| NM_001377949.1:c.982del | ||
| NM_001377950.1:c.874del | ||
| NM_001377951.1:c.376del | ||
| NM_020366.4:c.2896del |