Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153741019_153741020delinsCA , CM000685.2:g.153741019_153741020delinsCA | GRCh38 |
| NC_000023.10:g.153006473_153006474delinsCA , CM000685.1:g.153006473_153006474delinsCA | GRCh37 |
| NC_000023.9:g.152659667_152659668delinsCA | NCBI36 |
| NG_009022.2:g.21152_21153delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1780+300_1780+301delinsCA MANE Select | ENSP00000218104.3:n.1780+300_1780+301delinsCA | |
| ENST00000218104.5:c.1780+300_1780+301delinsCA | ENSP00000218104.3:n.1780+300_1780+301delinsCA | |
| NM_000033.3:c.1780+300_1780+301delinsCA | NP_000024.2:n.1780+300_1780+301delinsCA | |
| XR_938507.1:n.2252+300_2252+301delinsCA | ||
| XR_938507.2:n.2252+300_2252+301delinsCA | ||
| NM_000033.4:c.1780+300_1780+301delinsCA MANE Select | NP_000024.2:n.1780+300_1780+301delinsCA |