Linked Data
dbSNP Id:
rs779527384
ExAC:
13:25457289 G / GTT
gnomAD v2:
13-25457289-G-GTT
gnomAD v4:
13-24883151-G-GTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.24883152_24883153dup , CM000675.2:g.24883152_24883153dup | GRCh38 |
| NC_000013.10:g.25457290_25457291dup , CM000675.1:g.25457290_25457291dup | GRCh37 |
| NC_000013.9:g.24355290_24355291dup | NCBI36 |
| NG_009165.2:g.44795_44796dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381884.9:c.*24_*25dup (CENPJ) MANE Select | ENSP00000371308.4:n.*24_*25dup | |
| ENST00000381884.8:c.*24_*25dup (CENPJ) | ENSP00000371308.4:n.*24_*25dup | |
| ENST00000616936.4:c.*695_*696dup (CENPJ) | ENSP00000477511.1:n.*695_*696dup | |
| NM_018451.4:c.*24_*25dup (CENPJ) | NP_060921.3:n.*24_*25dup | |
| NR_047594.1:n.4353_4354dup (CENPJ) | ||
| NR_047595.1:n.4151_4152dup (CENPJ) | ||
| XM_011535156.1:c.*10+3857_*10+3858dup (RNF17) | XP_011533458.1:n.*10+3857_*10+3858dup | |
| XM_011535156.2:c.*10+3857_*10+3858dup (RNF17) | XP_011533458.1:n.*10+3857_*10+3858dup | |
| NM_018451.5:c.*24_*25dup (CENPJ) MANE Select | NP_060921.3:n.*24_*25dup | |
| NR_047594.2:n.4325_4326dup (CENPJ) | ||
| NR_047595.2:n.4123_4124dup (CENPJ) |