Linked Data
gnomAD v4:
19-47003943-C-CAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47003944_47003945insAA , CM000681.2:g.47003944_47003945insAA | GRCh38 |
| NC_000019.9:g.47507201_47507202insAA , CM000681.1:g.47507201_47507202insAA | GRCh37 |
| NC_000019.8:g.52199041_52199042insAA | NCBI36 |
| NG_047014.1:g.90378_90379insAA | |
| NG_047014.2:g.147948_147949insAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.7756_7757insAA | ENSP00000385720.2:n.7756_7757insAA | |
| ENST00000672722.1:c.*3256_*3257insAA MANE Select | ENSP00000500409.1:n.*3256_*3257insAA | |
| ENST00000404338.7:c.7756_7757insAA | ENSP00000385720.2:n.7756_7757insAA | |
| ENST00000614079.1:c.7333_7334insAA | ENSP00000483730.1:n.7333_7334insAA | |
| NM_004491.4:c.7756_7757insAA | NP_004482.4:n.7756_7757insAA | |
| NM_004491.5:c.*3256_*3257insAA MANE Select | NP_004482.4:n.*3256_*3257insAA |