Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47003949_47003950delinsCA , CM000681.2:g.47003949_47003950delinsCA | GRCh38 |
| NC_000019.9:g.47507206_47507207delinsCA , CM000681.1:g.47507206_47507207delinsCA | GRCh37 |
| NC_000019.8:g.52199046_52199047delinsCA | NCBI36 |
| NG_047014.1:g.90383_90384delinsCA | |
| NG_047014.2:g.147953_147954delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.7761_7762delinsCA | ENSP00000385720.2:n.7761_7762delinsCA | |
| ENST00000672722.1:c.*3261_*3262delinsCA MANE Select | ENSP00000500409.1:n.*3261_*3262delinsCA | |
| ENST00000404338.7:c.7761_7762delinsCA | ENSP00000385720.2:n.7761_7762delinsCA | |
| ENST00000614079.1:c.7338_7339delinsCA | ENSP00000483730.1:n.7338_7339delinsCA | |
| NM_004491.4:c.7761_7762delinsCA | NP_004482.4:n.7761_7762delinsCA | |
| NM_004491.5:c.*3261_*3262delinsCA MANE Select | NP_004482.4:n.*3261_*3262delinsCA |