Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6011567_6012178del , CM000674.2:g.6011567_6012178del | GRCh38 |
| NC_000012.11:g.6120733_6121344del , CM000674.1:g.6120733_6121344del | GRCh37 |
| NC_000012.10:g.5990994_5991605del | NCBI36 |
| NG_009072.1:g.117494_118105del | |
| NG_009072.2:g.117494_118105del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.3:c.5621-47_5842+51del | |
| NM_000552.4:c.5621-47_5842+51del | |
| NM_000552.5:c.5621-47_5842+51del | |
| ENST00000261405.10:c.5621-47_5842+51del | |
| ENST00000261405.9:c.5621-47_5842+51del | |
| ENST00000538635.5:n.421-18243_421-17632del |