Linked Data
dbSNP Id:
rs1568810879
gnomAD v2:
21-33039726-TAACA-T
gnomAD v4:
21-31667413-TAACA-T
MyVariant Identifiers:
chr21:g.33039727_33039730del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667414_31667417del , CM000683.2:g.31667414_31667417del | GRCh38 |
| NC_000021.8:g.33039727_33039730del , CM000683.1:g.33039727_33039730del | GRCh37 |
| NC_000021.7:g.31961598_31961601del | NCBI36 |
| NG_008689.1:g.12793_12796del , LRG_652:g.12793_12796del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.357+39_357+42del MANE Select | ENSP00000270142.7:n.357+39_357+42del | |
| ENST00000270142.10:c.357+39_357+42del | ENSP00000270142.6:n.357+39_357+42del | |
| ENST00000389995.4:c.300+39_300+42del | ENSP00000374645.4:n.300+39_300+42del | |
| ENST00000470944.1:n.1285+39_1285+42del | ||
| NM_000454.4:c.357+39_357+42del , LRG_652t1:c.357+39_357+42del | NP_000445.1:n.357+39_357+42del | |
| NM_000454.5:c.357+39_357+42del MANE Select | NP_000445.1:n.357+39_357+42del |