Linked Data
dbSNP Id:
rs1412813889
gnomAD v3:
21-46113967-T-TCCCA
gnomAD v4:
21-46113967-T-TCCCA
MyVariant Identifiers:
chr21:g.47533881_47533882insCCCA (hg19)
chr21:g.46113967_46113968insCCCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46113972_46113975dup , CM000683.2:g.46113972_46113975dup | GRCh38 |
| NC_000021.8:g.47533886_47533889dup , CM000683.1:g.47533886_47533889dup | GRCh37 |
| NC_000021.7:g.46358314_46358317dup | NCBI36 |
| NG_008675.1:g.20854_20857dup , LRG_476:g.20854_20857dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397763.6:c.736-36_736-33dup MANE Plus Clinical | ENSP00000380870.1:n.736-36_736-33dup | |
| ENST00000300527.9:c.736-36_736-33dup MANE Select | ENSP00000300527.4:n.736-36_736-33dup | |
| ENST00000409416.6:c.736-36_736-33dup | ENSP00000387115.1:n.736-36_736-33dup | |
| ENST00000300527.8:c.736-36_736-33dup | ENSP00000300527.4:n.736-36_736-33dup | |
| ENST00000310645.9:c.736-36_736-33dup | ENSP00000312529.5:n.736-36_736-33dup | |
| ENST00000397763.5:c.736-36_736-33dup | ENSP00000380870.1:n.736-36_736-33dup | |
| ENST00000409416.5:c.736-36_736-33dup | ENSP00000387115.1:n.736-36_736-33dup | |
| ENST00000485591.1:n.356_359dup | ||
| NM_001849.3:c.736-36_736-33dup , LRG_476t1:c.736-36_736-33dup | NP_001840.3:n.736-36_736-33dup | |
| NM_058174.2:c.736-36_736-33dup | NP_478054.2:n.736-36_736-33dup | |
| NM_058175.2:c.736-36_736-33dup | NP_478055.2:n.736-36_736-33dup | |
| XM_011529451.1:c.736-36_736-33dup | XP_011527753.1:n.736-36_736-33dup | |
| XM_011529452.1:c.736-36_736-33dup | XP_011527754.1:n.736-36_736-33dup | |
| XR_937438.1:n.859-36_859-33dup | ||
| XR_937439.1:n.859-36_859-33dup | ||
| XR_937438.2:n.866-36_866-33dup | ||
| XR_937439.2:n.866-36_866-33dup | ||
| NM_001849.4:c.736-36_736-33dup MANE Select | NP_001840.3:n.736-36_736-33dup | |
| NM_058174.3:c.736-36_736-33dup MANE Plus Clinical | NP_478054.2:n.736-36_736-33dup | |
| NM_058175.3:c.736-36_736-33dup | NP_478055.2:n.736-36_736-33dup |