Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32202725_32202728del , CM000668.2:g.32202725_32202728del | GRCh38 |
| NC_000006.11:g.32170502_32170505del , CM000668.1:g.32170502_32170505del | GRCh37 |
| NC_000006.10:g.32278480_32278483del | NCBI36 |
| NG_028190.1:g.26342_26345del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375023.3:c.3232-127_3232-124del MANE Select | ENSP00000364163.3:n.3232-127_3232-124del | |
| ENST00000474612.1:n.1191_1194del | ||
| NM_004557.3:c.3232-127_3232-124del | NP_004548.3:n.3232-127_3232-124del | |
| NR_134949.1:n.3472+1044_3472+1047del | ||
| NR_134950.1:n.3370+1044_3370+1047del | ||
| NM_004557.4:c.3232-127_3232-124del MANE Select | NP_004548.3:n.3232-127_3232-124del | |
| NR_134949.2:n.3472+1044_3472+1047del | ||
| NR_134950.2:n.3370+1044_3370+1047del |