Linked Data
dbSNP Id:
rs1408716571
gnomAD v2:
20-44576114-T-TGGCCA
gnomAD v4:
20-45947475-T-TGGCCA
MyVariant Identifiers:
chr20:g.44576114_44576115insGGCCA (hg19)
chr20:g.45947475_45947476insGGCCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45947485_45947489dup , CM000682.2:g.45947485_45947489dup | GRCh38 |
| NC_000020.10:g.44576124_44576128dup , CM000682.1:g.44576124_44576128dup | GRCh37 |
| NC_000020.9:g.44009531_44009535dup | NCBI36 |
| NG_029772.1:g.29715_29719dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372409.8:c.1884-39_1884-35dup MANE Select | ENSP00000361486.3:n.1884-39_1884-35dup | |
| ENST00000372409.7:c.1884-39_1884-35dup | ENSP00000361486.3:n.1884-39_1884-35dup | |
| ENST00000479348.2:c.786_790dup | ||
| NM_022104.3:c.1884-39_1884-35dup | NP_071387.1:n.1884-39_1884-35dup | |
| XM_011528980.1:c.1884-39_1884-35dup | XP_011527282.1:n.1884-39_1884-35dup | |
| XM_011528981.1:c.1884-39_1884-35dup | XP_011527283.1:n.1884-39_1884-35dup | |
| XM_011528982.1:c.840-39_840-35dup | XP_011527284.1:n.840-39_840-35dup | |
| XM_011528980.3:c.1884-39_1884-35dup | XP_011527282.1:n.1884-39_1884-35dup | |
| XM_011528981.3:c.1884-39_1884-35dup | XP_011527283.1:n.1884-39_1884-35dup | |
| XM_017028013.2:c.1884-39_1884-35dup | XP_016883502.1:n.1884-39_1884-35dup | |
| XM_017028014.2:c.840-39_840-35dup | XP_016883503.1:n.840-39_840-35dup | |
| NM_022104.4:c.1884-39_1884-35dup MANE Select | NP_071387.1:n.1884-39_1884-35dup |