Linked Data
ClinVar Variation Id:
2719606
ClinVar RCV Id:
RCV003553701
dbSNP Id:
rs751539720
ExAC:
21:19653544 A / AATT
gnomAD v2:
21-19653544-A-AATT
gnomAD v3:
21-18281227-A-AATT
gnomAD v4:
21-18281227-A-AATT
MyVariant Identifiers:
chr21:g.19653544_19653545insATT (hg19)
chr21:g.18281227_18281228insATT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.18281228_18281230dup , CM000683.2:g.18281228_18281230dup | GRCh38 |
| NC_000021.8:g.19653545_19653547dup , CM000683.1:g.19653545_19653547dup | GRCh37 |
| NC_000021.7:g.18575416_18575418dup | NCBI36 |
| NG_012207.1:g.127424_127426dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284885.8:c.2487-9_2487-7dup MANE Select | ENSP00000284885.3:n.2487-9_2487-7dup | |
| ENST00000284885.7:c.2487-9_2487-7dup | ENSP00000284885.3:n.2487-9_2487-7dup | |
| NM_002772.2:c.2487-9_2487-7dup | NP_002763.2:n.2487-9_2487-7dup | |
| XM_011529654.1:c.2622-9_2622-7dup | XP_011527956.1:n.2622-9_2622-7dup | |
| XM_011529655.1:c.2622-9_2622-7dup | XP_011527957.1:n.2622-9_2622-7dup | |
| XM_011529656.1:c.2622-9_2622-7dup | XP_011527958.1:n.2622-9_2622-7dup | |
| XM_011529657.1:c.2577-9_2577-7dup | XP_011527959.1:n.2577-9_2577-7dup | |
| XM_011529658.1:c.2541-9_2541-7dup | XP_011527960.1:n.2541-9_2541-7dup | |
| XM_011529659.1:c.2532-9_2532-7dup | XP_011527961.1:n.2532-9_2532-7dup | |
| XM_011529654.2:c.2622-9_2622-7dup | XP_011527956.1:n.2622-9_2622-7dup | |
| XM_011529656.2:c.2622-9_2622-7dup | XP_011527958.1:n.2622-9_2622-7dup | |
| XM_011529657.2:c.2577-9_2577-7dup | XP_011527959.1:n.2577-9_2577-7dup | |
| XM_011529658.2:c.2541-9_2541-7dup | XP_011527960.1:n.2541-9_2541-7dup | |
| NM_002772.3:c.2487-9_2487-7dup MANE Select | NP_002763.3:n.2487-9_2487-7dup |