Linked Data
dbSNP Id:
rs1568807304
gnomAD v2:
21-33032095-GC-G
gnomAD v4:
21-31659782-GC-G
MyVariant Identifiers:
chr21:g.33032096del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659784del , CM000683.2:g.31659784del | GRCh38 |
| NC_000021.8:g.33032097del , CM000683.1:g.33032097del | GRCh37 |
| NC_000021.7:g.31953968del | NCBI36 |
| NG_008689.1:g.5163del , LRG_652:g.5163del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.15del MANE Select | ENSP00000270142.7:p.Val6CysfsTer4 | |
| ENST00000270142.10:c.15del | ENSP00000270142.6:p.Val6CysfsTer4 | |
| ENST00000389995.4:c.15del | ENSP00000374645.4:p.Glu6LysfsTer6 | |
| ENST00000470944.1:n.76del | ||
| ENST00000476106.5:n.92del | ||
| NM_000454.4:c.15del , LRG_652t1:c.15del | NP_000445.1:p.Val6CysfsTer4 | |
| NM_000454.5:c.15del MANE Select | NP_000445.1:p.Val6CysfsTer4 |