Linked Data
dbSNP Id:
rs1336544825
gnomAD v2:
13-25457113-A-AAGAC
gnomAD v3:
13-24882975-A-AAGAC
gnomAD v4:
13-24882975-A-AAGAC
MyVariant Identifiers:
chr13:g.25457113_25457114insAGAC (hg19)
chr13:g.24882975_24882976insAGAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.24882978_24882981dup , CM000675.2:g.24882978_24882981dup | GRCh38 |
| NC_000013.10:g.25457116_25457119dup , CM000675.1:g.25457116_25457119dup | GRCh37 |
| NC_000013.9:g.24355116_24355119dup | NCBI36 |
| NG_009165.2:g.44969_44972dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381884.9:c.*198_*201dup (CENPJ) MANE Select | ENSP00000371308.4:n.*198_*201dup | |
| ENST00000616936.4:c.*869_*872dup (CENPJ) | ENSP00000477511.1:n.*869_*872dup | |
| NM_018451.4:c.*198_*201dup (CENPJ) | NP_060921.3:n.*198_*201dup | |
| NR_047594.1:n.4527_4530dup (CENPJ) | ||
| NR_047595.1:n.4325_4328dup (CENPJ) | ||
| XM_011535156.1:c.*10+3683_*10+3686dup (RNF17) | XP_011533458.1:n.*10+3683_*10+3686dup | |
| XM_011535156.2:c.*10+3683_*10+3686dup (RNF17) | XP_011533458.1:n.*10+3683_*10+3686dup | |
| NM_018451.5:c.*198_*201dup (CENPJ) MANE Select | NP_060921.3:n.*198_*201dup | |
| NR_047594.2:n.4499_4502dup (CENPJ) | ||
| NR_047595.2:n.4297_4300dup (CENPJ) |