Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47003919_47003920delinsCA , CM000681.2:g.47003919_47003920delinsCA | GRCh38 |
| NC_000019.9:g.47507176_47507177delinsCA , CM000681.1:g.47507176_47507177delinsCA | GRCh37 |
| NC_000019.8:g.52199016_52199017delinsCA | NCBI36 |
| NG_047014.1:g.90353_90354delinsCA | |
| NG_047014.2:g.147923_147924delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.7731_7732delinsCA | ENSP00000385720.2:n.7731_7732delinsCA | |
| ENST00000672722.1:c.*3231_*3232delinsCA MANE Select | ENSP00000500409.1:n.*3231_*3232delinsCA | |
| ENST00000404338.7:c.7731_7732delinsCA | ENSP00000385720.2:n.7731_7732delinsCA | |
| ENST00000614079.1:c.7308_7309delinsCA | ENSP00000483730.1:n.7308_7309delinsCA | |
| NM_004491.4:c.7731_7732delinsCA | NP_004482.4:n.7731_7732delinsCA | |
| NM_004491.5:c.*3231_*3232delinsCA MANE Select | NP_004482.4:n.*3231_*3232delinsCA |