Linked Data
gnomAD v4:
19-47004297-GGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47004301_47004302del , CM000681.2:g.47004301_47004302del | GRCh38 |
| NC_000019.9:g.47507558_47507559del , CM000681.1:g.47507558_47507559del | GRCh37 |
| NC_000019.8:g.52199398_52199399del | NCBI36 |
| NG_047014.1:g.90735_90736del | |
| NG_047014.2:g.148305_148306del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.8113_8114del | ENSP00000385720.2:n.8113_8114del | |
| ENST00000672722.1:c.*3613_*3614del MANE Select | ENSP00000500409.1:n.*3613_*3614del | |
| ENST00000404338.7:c.8113_8114del | ENSP00000385720.2:n.8113_8114del | |
| ENST00000614079.1:c.7690_7691del | ENSP00000483730.1:n.7690_7691del | |
| NM_004491.4:c.8113_8114del | NP_004482.4:n.8113_8114del | |
| NM_004491.5:c.*3613_*3614del MANE Select | NP_004482.4:n.*3613_*3614del |