Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154957047del , CM000685.2:g.154957047del | GRCh38 |
| NC_000023.10:g.154185322del , CM000685.1:g.154185322del | GRCh37 |
| NC_000023.9:g.153838516del | NCBI36 |
| NG_011403.1:g.70679del | |
| NG_011403.2:g.70679del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1664del MANE Select | ENSP00000353393.4:p.Phe555SerfsTer8 | |
| ENST00000647125.1:c.*1540del | ENSP00000496062.1:n.*1540del | |
| ENST00000360256.8:c.1664del | ENSP00000353393.4:p.Phe555SerfsTer8 | |
| NM_000132.3:c.1664del | NP_000123.1:p.Phe555SerfsTer8 | |
| XM_011531126.1:c.1559del | XP_011529428.1:p.Phe520SerfsTer8 | |
| NM_000132.4:c.1664del MANE Select | NP_000123.1:p.Phe555SerfsTer8 |