Linked Data
ClinVar Variation Id:
224176
ClinVar RCV Id:
RCV000209882
dbSNP Id:
rs866141540
gnomAD v3:
20-6096995-CTG-C
gnomAD v4:
20-6096995-CTG-C
MyVariant Identifiers:
chr20:g.6077643_6077644del (hg19)
chr20:g.6096997_6096998del (hg38)
chr20:g.6096996_6096997del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6096999_6097000del , CM000682.2:g.6096999_6097000del | GRCh38 |
| NC_000020.10:g.6077646_6077647del , CM000682.1:g.6077646_6077647del | GRCh37 |
| NC_000020.9:g.6025646_6025647del | NCBI36 |
| NG_016213.1:g.31548_31549del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699095.1:c.994_995del | ENSP00000514127.1:p.Gln332GlyfsTer9 | |
| ENST00000699096.1:n.1456_1457del | ||
| ENST00000699097.1:n.164_165del | ||
| ENST00000217289.9:c.994_995del MANE Select | ENSP00000217289.4:p.Gln332GlyfsTer9 | |
| ENST00000217289.8:c.994_995del | ENSP00000217289.4:p.Gln332GlyfsTer9 | |
| ENST00000536936.1:c.223_224del | ENSP00000441063.1:p.Gln75GlyfsTer9 | |
| NM_017671.4:c.994_995del | NP_060141.3:p.Gln332GlyfsTer9 | |
| XM_024451935.1:c.994_995del | XP_024307703.1:p.Gln332GlyfsTer9 | |
| NM_017671.5:c.994_995del MANE Select | NP_060141.3:p.Gln332GlyfsTer9 |