Linked Data
gnomAD v4:
13-20188819-C-CGACTGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20188821_20188826dup , CM000675.2:g.20188821_20188826dup | GRCh38 |
| NC_000013.10:g.20762960_20762965dup , CM000675.1:g.20762960_20762965dup | GRCh37 |
| NC_000013.9:g.19660960_19660965dup | NCBI36 |
| NG_008358.1:g.9151_9156dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.*76_*81dup | ENSP00000372295.1:n.*76_*81dup | |
| ENST00000382848.5:c.*76_*81dup MANE Select | ENSP00000372299.4:n.*76_*81dup | |
| ENST00000382844.1:c.*76_*81dup | ENSP00000372295.1:n.*76_*81dup | |
| ENST00000382848.4:c.*76_*81dup | ENSP00000372299.4:n.*76_*81dup | |
| NM_004004.5:c.*76_*81dup | NP_003995.2:n.*76_*81dup | |
| XM_011535049.1:c.*76_*81dup | XP_011533351.1:n.*76_*81dup | |
| XM_011535049.2:c.*76_*81dup | XP_011533351.1:n.*76_*81dup | |
| NM_004004.6:c.*76_*81dup MANE Select | NP_003995.2:n.*76_*81dup |