Linked Data
ClinVar Variation Id:
2896656
ClinVar RCV Id:
RCV003731026
dbSNP Id:
rs1823853222
gnomAD v3:
8-86671115-AT-A
gnomAD v4:
8-86671115-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671116del , CM000670.2:g.86671116del | GRCh38 |
| NC_000008.10:g.87683344del , CM000670.1:g.87683344del | GRCh37 |
| NC_000008.9:g.87752460del | NCBI36 |
| NG_016980.1:g.77560del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.339-18del MANE Select | ENSP00000316605.5:n.339-18del | |
| ENST00000680314.1:n.100-18del | ||
| ENST00000681746.1:c.339-18del | ENSP00000505959.1:n.339-18del | |
| ENST00000320005.5:c.339-18del | ENSP00000316605.5:n.339-18del | |
| NM_019098.4:c.339-18del | NP_061971.3:n.339-18del | |
| XM_011517138.1:c.-76-18del | XP_011515440.1:n.-76-18del | |
| XM_011517138.2:c.-76-18del | XP_011515440.1:n.-76-18del | |
| NM_019098.5:c.339-18del MANE Select | NP_061971.3:n.339-18del |