Linked Data
gnomAD v4:
13-48046000-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48046001dup , CM000675.2:g.48046001dup | GRCh38 |
| NC_000013.10:g.48620137dup , CM000675.1:g.48620137dup | GRCh37 |
| NC_000013.9:g.47518138dup | NCBI36 |
| NG_047021.1:g.13435dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.*202dup MANE Select | ENSP00000258662.1:n.*202dup | |
| ENST00000258662.2:c.*202dup | ENSP00000258662.1:n.*202dup | |
| NM_018283.2:c.*202dup | NP_060753.1:n.*202dup | |
| NM_018283.3:c.*202dup | NP_060753.1:n.*202dup | |
| NR_136687.1:n.718+159dup | ||
| NR_136688.1:n.675+202dup | ||
| NM_018283.4:c.*202dup MANE Select | NP_060753.1:n.*202dup | |
| NR_136687.2:n.559+159dup | ||
| NR_136688.2:n.516+202dup |