Linked Data
gnomAD v4:
15-84839719-C-CCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84839721_84839722dup , CM000677.2:g.84839721_84839722dup | GRCh38 |
| NC_000015.9:g.85382952_85382953dup , CM000677.1:g.85382952_85382953dup | GRCh37 |
| NC_000015.8:g.83183956_83183957dup | NCBI36 |
| NG_054748.1:g.28091_28092dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258888.6:c.442_443dup MANE Select | ENSP00000258888.6:p.Ile149ProfsTer25 | |
| ENST00000258888.5:c.1048_1049dup | ENSP00000258888.5:p.Ile351ProfsTer25 | |
| NM_020778.4:c.1048_1049dup | NP_065829.3:p.Ile351ProfsTer25 | |
| NM_020778.5:c.442_443dup MANE Select | NP_065829.4:p.Ile149ProfsTer25 |