Linked Data
ClinVar Variation Id:
21672
ClinVar RCV Id:
RCV000020862
dbSNP Id:
rs113994196
gnomAD v4:
20-10412638-A-ACAGG
MyVariant Identifiers:
chr20:g.10393286_10393287insCAGG (hg19)
chr20:g.10412638_10412639insCAGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10412639_10412642dup , CM000682.2:g.10412639_10412642dup | GRCh38 |
| NC_000020.10:g.10393287_10393290dup , CM000682.1:g.10393287_10393290dup | GRCh37 |
| NC_000020.9:g.10341287_10341290dup | NCBI36 |
| NG_009109.1:g.26577_26580dup | |
| NG_009109.2:g.26577_26580dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651692.1:c.873_876dup | ENSP00000498849.1:p.Cys293ProfsTer? | |
| ENST00000652676.1:n.517_520dup | ||
| ENST00000347364.7:c.873_876dup MANE Select | ENSP00000246062.4:p.Cys293ProfsTer? | |
| ENST00000399054.6:c.873_876dup | ENSP00000382008.2:p.Cys293ProfsTer? | |
| NM_018848.3:c.873_876dup | NP_061336.1:p.Cys293ProfsTer? | |
| NM_170784.2:c.873_876dup | NP_740754.1:p.Cys293ProfsTer? | |
| NR_072977.1:n.364-3839_364-3836dup | ||
| NR_072977.2:n.347-3839_347-3836dup | ||
| NM_170784.3:c.873_876dup MANE Select | NP_740754.1:p.Cys293ProfsTer? |