Linked Data
dbSNP Id:
rs974601782
gnomAD v2:
13-25457080-T-TAAAC
gnomAD v3:
13-24882942-T-TAAAC
gnomAD v4:
13-24882942-T-TAAAC
MyVariant Identifiers:
chr13:g.25457080_25457081insAAAC (hg19)
chr13:g.24882942_24882943insAAAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.24882944_24882947dup , CM000675.2:g.24882944_24882947dup | GRCh38 |
| NC_000013.10:g.25457082_25457085dup , CM000675.1:g.25457082_25457085dup | GRCh37 |
| NC_000013.9:g.24355082_24355085dup | NCBI36 |
| NG_009165.2:g.45002_45005dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381884.9:c.*231_*234dup (CENPJ) MANE Select | ENSP00000371308.4:n.*231_*234dup | |
| ENST00000616936.4:c.*902_*905dup (CENPJ) | ENSP00000477511.1:n.*902_*905dup | |
| NM_018451.4:c.*231_*234dup (CENPJ) | NP_060921.3:n.*231_*234dup | |
| NR_047594.1:n.4560_4563dup (CENPJ) | ||
| NR_047595.1:n.4358_4361dup (CENPJ) | ||
| XM_011535156.1:c.*10+3649_*10+3652dup (RNF17) | XP_011533458.1:n.*10+3649_*10+3652dup | |
| XM_011535156.2:c.*10+3649_*10+3652dup (RNF17) | XP_011533458.1:n.*10+3649_*10+3652dup | |
| NM_018451.5:c.*231_*234dup (CENPJ) MANE Select | NP_060921.3:n.*231_*234dup | |
| NR_047594.2:n.4532_4535dup (CENPJ) | ||
| NR_047595.2:n.4330_4333dup (CENPJ) |