Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32202686_32202688delinsCAG , CM000668.2:g.32202686_32202688delinsCAG | GRCh38 |
| NC_000006.11:g.32170463_32170465delinsCAG , CM000668.1:g.32170463_32170465delinsCAG | GRCh37 |
| NC_000006.10:g.32278441_32278443delinsCAG | NCBI36 |
| NG_028190.1:g.26380_26382delinsCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375023.3:c.3232-89_3232-87delinsCTG MANE Select | ENSP00000364163.3:n.3232-89_3232-87delinsCTG | |
| ENST00000474612.1:n.1229_1231delinsCTG | ||
| NM_004557.3:c.3232-89_3232-87delinsCTG | NP_004548.3:n.3232-89_3232-87delinsCTG | |
| NR_134949.1:n.3472+1082_3472+1084delinsCTG | ||
| NR_134950.1:n.3370+1082_3370+1084delinsCTG | ||
| NM_004557.4:c.3232-89_3232-87delinsCTG MANE Select | NP_004548.3:n.3232-89_3232-87delinsCTG | |
| NR_134949.2:n.3472+1082_3472+1084delinsCTG | ||
| NR_134950.2:n.3370+1082_3370+1084delinsCTG |