Linked Data
gnomAD v4:
19-47003946-A-ACC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47003947_47003948insCC , CM000681.2:g.47003947_47003948insCC | GRCh38 |
| NC_000019.9:g.47507204_47507205insCC , CM000681.1:g.47507204_47507205insCC | GRCh37 |
| NC_000019.8:g.52199044_52199045insCC | NCBI36 |
| NG_047014.1:g.90381_90382insCC | |
| NG_047014.2:g.147951_147952insCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.7759_7760insCC | ENSP00000385720.2:n.7759_7760insCC | |
| ENST00000672722.1:c.*3259_*3260insCC MANE Select | ENSP00000500409.1:n.*3259_*3260insCC | |
| ENST00000404338.7:c.7759_7760insCC | ENSP00000385720.2:n.7759_7760insCC | |
| ENST00000614079.1:c.7336_7337insCC | ENSP00000483730.1:n.7336_7337insCC | |
| NM_004491.4:c.7759_7760insCC | NP_004482.4:n.7759_7760insCC | |
| NM_004491.5:c.*3259_*3260insCC MANE Select | NP_004482.4:n.*3259_*3260insCC |