Linked Data
dbSNP Id:
rs1416161219
gnomAD v3:
21-18280908-T-TAAG
gnomAD v4:
21-18280908-T-TAAG
MyVariant Identifiers:
chr21:g.19653225_19653226insAAG (hg19)
chr21:g.18280908_18280909insAAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.18280909_18280911dup , CM000683.2:g.18280909_18280911dup | GRCh38 |
| NC_000021.8:g.19653226_19653228dup , CM000683.1:g.19653226_19653228dup | GRCh37 |
| NC_000021.7:g.18575097_18575099dup | NCBI36 |
| NG_012207.1:g.127743_127745dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284885.8:c.2668+129_2668+131dup MANE Select | ENSP00000284885.3:n.2668+129_2668+131dup | |
| ENST00000284885.7:c.2668+129_2668+131dup | ENSP00000284885.3:n.2668+129_2668+131dup | |
| NM_002772.2:c.2668+129_2668+131dup | NP_002763.2:n.2668+129_2668+131dup | |
| XM_011529654.1:c.2803+129_2803+131dup | XP_011527956.1:n.2803+129_2803+131dup | |
| XM_011529655.1:c.2803+129_2803+131dup | XP_011527957.1:n.2803+129_2803+131dup | |
| XM_011529656.1:c.2803+129_2803+131dup | XP_011527958.1:n.2803+129_2803+131dup | |
| XM_011529657.1:c.2758+129_2758+131dup | XP_011527959.1:n.2758+129_2758+131dup | |
| XM_011529658.1:c.2722+129_2722+131dup | XP_011527960.1:n.2722+129_2722+131dup | |
| XM_011529659.1:c.2713+129_2713+131dup | XP_011527961.1:n.2713+129_2713+131dup | |
| XM_011529654.2:c.2803+129_2803+131dup | XP_011527956.1:n.2803+129_2803+131dup | |
| XM_011529656.2:c.2803+129_2803+131dup | XP_011527958.1:n.2803+129_2803+131dup | |
| XM_011529657.2:c.2758+129_2758+131dup | XP_011527959.1:n.2758+129_2758+131dup | |
| XM_011529658.2:c.2722+129_2722+131dup | XP_011527960.1:n.2722+129_2722+131dup | |
| NM_002772.3:c.2668+129_2668+131dup MANE Select | NP_002763.3:n.2668+129_2668+131dup |