Linked Data
ClinVar Variation Id:
21670
ClinVar RCV Id:
RCV000020860
dbSNP Id:
rs113994195
gnomAD v4:
20-10413073-GAGTACTACTAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10413077_10413087del , CM000682.2:g.10413077_10413087del | GRCh38 |
| NC_000020.10:g.10393725_10393735del , CM000682.1:g.10393725_10393735del | GRCh37 |
| NC_000020.9:g.10341725_10341735del | NCBI36 |
| NG_009109.1:g.26135_26145del | |
| NG_009109.2:g.26135_26145del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651692.1:c.431_441del | ENSP00000498849.1:p.Phe144SerfsTer9 | |
| ENST00000652676.1:n.459-384_459-374del | ||
| ENST00000347364.7:c.431_441del MANE Select | ENSP00000246062.4:p.Phe144SerfsTer9 | |
| ENST00000399054.6:c.431_441del | ENSP00000382008.2:p.Phe144SerfsTer9 | |
| NM_018848.3:c.431_441del | NP_061336.1:p.Phe144SerfsTer9 | |
| NM_170784.2:c.431_441del | NP_740754.1:p.Phe144SerfsTer9 | |
| NR_072977.1:n.364-4281_364-4271del | ||
| NR_072977.2:n.347-4281_347-4271del | ||
| NM_170784.3:c.431_441del MANE Select | NP_740754.1:p.Phe144SerfsTer9 |