MyVariant.info:
GRCh38
chr21:g.46002707_46002746del
GRCh38
chr21:g.46002696_46002735del
GRCh37
chr21:g.47422621_47422660del
GRCh37
chr21:g.47422610_47422649del
gnomAD v4:
Joint Max Group AF
0.000005 (NFE)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00000531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46002707_46002746del , CM000683.2:g.46002707_46002746del | GRCh38 |
| NC_000021.8:g.47422621_47422660del , CM000683.1:g.47422621_47422660del | GRCh37 |
| NC_000021.7:g.46247049_46247088del | NCBI36 |
| NG_008674.1:g.25959_25998del , LRG_475:g.25959_25998del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.830_833+36del | ||
| ENST00000612273.2:c.557_560+36del | ||
| ENST00000682634.1:c.557_560+36del | ||
| ENST00000361866.8:c.2431_2434+36del | ||
| ENST00000361866.7:c.2431_2434+36del | ||
| ENST00000463060.5:n.830_833+36del | ||
| ENST00000486023.1:n.219_222+36del | ||
| ENST00000498614.5:n.665_668+36del | ||
| ENST00000612273.1:c.2425_2428+36del | ||
| NM_001848.2:c.2431_2434+36del , LRG_475t1:c.2431_2434+36del | ||
| NM_001848.3:c.2431_2434+36del |