Linked Data
gnomAD v4:
5-14871536-C-CGGGGCGCGGGCCGACAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871537_14871553dup , CM000667.2:g.14871537_14871553dup | GRCh38 |
| NC_000005.9:g.14871646_14871662dup , CM000667.1:g.14871646_14871662dup | GRCh37 |
| NC_000005.8:g.14924646_14924662dup | NCBI36 |
| NG_008273.1:g.5226_5242dup | |
| NG_008273.2:g.5233_5249dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.-106_-90dup MANE Select | ENSP00000284268.6:n.-106_-90dup | |
| ENST00000284268.6:c.-106_-90dup | ENSP00000284268.6:n.-106_-90dup | |
| ENST00000505140.1:c.-106_-90dup | ENSP00000426332.1:n.-106_-90dup | |
| NM_054027.4:c.-106_-90dup | NP_473368.1:n.-106_-90dup | |
| XM_011514067.1:c.-106_-90dup | XP_011512369.1:n.-106_-90dup | |
| NM_054027.5:c.-106_-90dup | NP_473368.1:n.-106_-90dup | |
| NM_054027.6:c.-106_-90dup MANE Select | NP_473368.1:n.-106_-90dup |