Linked Data
gnomAD v4:
13-48045757-A-AGATCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045760_48045764dup , CM000675.2:g.48045760_48045764dup | GRCh38 |
| NC_000013.10:g.48619896_48619900dup , CM000675.1:g.48619896_48619900dup | GRCh37 |
| NC_000013.9:g.47517897_47517901dup | NCBI36 |
| NG_047021.1:g.13194_13198dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.456_460dup MANE Select | ENSP00000258662.1:p.Asn154IlefsTer2 | |
| ENST00000258662.2:c.456_460dup | ENSP00000258662.1:p.Asn154IlefsTer2 | |
| NM_018283.2:c.456_460dup | NP_060753.1:p.Asn154IlefsTer2 | |
| NM_018283.3:c.456_460dup | NP_060753.1:p.Asn154IlefsTer2 | |
| NR_136687.1:n.636_640dup | ||
| NR_136688.1:n.636_640dup | ||
| NM_018283.4:c.456_460dup MANE Select | NP_060753.1:p.Asn154IlefsTer2 | |
| NR_136687.2:n.477_481dup | ||
| NR_136688.2:n.477_481dup |