Linked Data
gnomAD v4:
13-20192661-GAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20192662_20192663del , CM000675.2:g.20192662_20192663del | GRCh38 |
| NC_000013.10:g.20766801_20766802del , CM000675.1:g.20766801_20766802del | GRCh37 |
| NC_000013.9:g.19664801_19664802del | NCBI36 |
| NG_008358.1:g.5313_5314del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382848.5:c.-23+120_-23+121del MANE Select | ENSP00000372299.4:n.-23+120_-23+121del | |
| ENST00000382848.4:c.-23+120_-23+121del | ENSP00000372299.4:n.-23+120_-23+121del | |
| NM_004004.5:c.-23+120_-23+121del | NP_003995.2:n.-23+120_-23+121del | |
| NM_004004.6:c.-23+120_-23+121del MANE Select | NP_003995.2:n.-23+120_-23+121del |