Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23419759_23419760delinsTG , CM000676.2:g.23419759_23419760delinsTG | GRCh38 |
| NC_000014.8:g.23888968_23888969delinsTG , CM000676.1:g.23888968_23888969delinsTG | GRCh37 |
| NC_000014.7:g.22958808_22958809delinsTG | NCBI36 |
| NG_007884.1:g.20902_20903delinsCA , LRG_384:g.20902_20903delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3726+85_3726+86delinsCA MANE Select | ENSP00000347507.3:n.3726+85_3726+86delinsCA | |
| ENST00000355349.3:c.3726+85_3726+86delinsCA | ENSP00000347507.3:n.3726+85_3726+86delinsCA | |
| NM_000257.3:c.3726+85_3726+86delinsCA | NP_000248.2:n.3726+85_3726+86delinsCA | |
| XM_017021340.1:c.3726+85_3726+86delinsCA | XP_016876829.1:n.3726+85_3726+86delinsCA | |
| NM_000257.4:c.3726+85_3726+86delinsCA MANE Select | NP_000248.2:n.3726+85_3726+86delinsCA |