Linked Data
dbSNP Id:
rs1568810855
gnomAD v2:
21-33039713-A-AT
gnomAD v4:
21-31667400-A-AT
MyVariant Identifiers:
chr21:g.33039713_33039714insT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667401dup , CM000683.2:g.31667401dup | GRCh38 |
| NC_000021.8:g.33039714dup , CM000683.1:g.33039714dup | GRCh37 |
| NC_000021.7:g.31961585dup | NCBI36 |
| NG_008689.1:g.12780dup , LRG_652:g.12780dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.357+26dup MANE Select | ENSP00000270142.7:n.357+26dup | |
| ENST00000270142.10:c.357+26dup | ENSP00000270142.6:n.357+26dup | |
| ENST00000389995.4:c.300+26dup | ENSP00000374645.4:n.300+26dup | |
| ENST00000470944.1:n.1285+26dup | ||
| NM_000454.4:c.357+26dup , LRG_652t1:c.357+26dup | NP_000445.1:n.357+26dup | |
| NM_000454.5:c.357+26dup MANE Select | NP_000445.1:n.357+26dup |