Linked Data
ClinVar Variation Id:
1063046
ClinVar RCV Id:
RCV001372846
dbSNP Id:
rs1853451296
gnomAD v4:
11-32434953-GGGTGGCGGCGGAGCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32434964_32434978del , CM000673.2:g.32434964_32434978del | GRCh38 |
| NC_000011.9:g.32456510_32456524del , CM000673.1:g.32456510_32456524del | GRCh37 |
| NC_000011.8:g.32413086_32413100del | NCBI36 |
| NG_009272.1:g.5574_5588del , LRG_525:g.5574_5588del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.393_407del | ENSP00000331327.5:p.Ala132_Pro136del | |
| ENST00000379077.9:c.393_407del | ENSP00000368368.5:p.Ala132_Pro136del | |
| ENST00000448076.9:c.393_407del | ENSP00000413452.5:p.Ala132_Pro136del | |
| ENST00000452863.10:c.393_407del MANE Select | ENSP00000415516.5:p.Ala132_Pro136del | |
| ENST00000639563.3:c.393_407del | ENSP00000492269.3:p.Ala132_Pro136del | |
| ENST00000332351.7:c.378_392del | ENSP00000331327.3:p.Ala127_Pro131del | |
| ENST00000379077.7:c.378_392del | ENSP00000368368.3:p.Ala127_Pro131del | |
| ENST00000448076.7:c.378_392del | ENSP00000413452.3:p.Ala127_Pro131del | |
| ENST00000452863.7:c.378_392del | ENSP00000415516.3:p.Ala127_Pro131del | |
| NM_000378.4:c.378_392del | NP_000369.3:p.Ala127_Pro131del | |
| NM_024424.3:c.378_392del | NP_077742.2:p.Ala127_Pro131del | |
| NM_024426.4:c.378_392del | NP_077744.3:p.Ala127_Pro131del | |
| NM_000378.5:c.393_407del | NP_000369.4:p.Ala132_Pro136del | |
| NM_024424.4:c.393_407del | NP_077742.3:p.Ala132_Pro136del | |
| NM_024426.5:c.393_407del | NP_077744.4:p.Ala132_Pro136del | |
| NR_160306.1:n.572_586del | ||
| NM_000378.6:c.393_407del | NP_000369.4:p.Ala132_Pro136del | |
| NM_024424.5:c.393_407del | NP_077742.3:p.Ala132_Pro136del | |
| NM_024426.6:c.393_407del MANE Select | NP_077744.4:p.Ala132_Pro136del |