Linked Data
dbSNP Id:
rs1569517968
gnomAD v2:
21-47407706-GGGTCC-G
gnomAD v3:
21-45987792-GGGTCC-G
gnomAD v4:
21-45987792-GGGTCC-G
MyVariant Identifiers:
chr21:g.47407707_47407917delinsAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA (hg19)
chr21:g.45987793_45988003delinsAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45987793_45987797del , CM000683.2:g.45987793_45987797del | GRCh38 |
| NC_000021.8:g.47407707_47407711del , CM000683.1:g.47407707_47407711del | GRCh37 |
| NC_000021.7:g.46232135_46232139del | NCBI36 |
| NG_008674.1:g.11045_11049del , LRG_475:g.11045_11049del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.804+139_804+143del MANE Select | ENSP00000355180.3:n.804+139_804+143del | |
| ENST00000361866.7:c.804+139_804+143del | ENSP00000355180.3:n.804+139_804+143del | |
| ENST00000612273.1:c.804+139_804+143del | ENSP00000483630.1:n.804+139_804+143del | |
| NM_001848.2:c.804+139_804+143del , LRG_475t1:c.804+139_804+143del | NP_001839.2:n.804+139_804+143del | |
| NM_001848.3:c.804+139_804+143del MANE Select | NP_001839.2:n.804+139_804+143del |