Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589962del , CM000672.2:g.110589962del | GRCh38 |
| NC_000010.10:g.112349720del , CM000672.1:g.112349720del | GRCh37 |
| NC_000010.9:g.112339710del | NCBI36 |
| NG_012217.1:g.27272del , LRG_774:g.27272del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1380del | ||
| ENST00000684988.1:n.2125del | ||
| ENST00000687823.1:n.1394del | ||
| ENST00000689932.1:n.3543del | ||
| ENST00000691297.1:n.1613del | ||
| ENST00000691527.1:n.2283del | ||
| ENST00000692792.1:n.1599del | ||
| ENST00000361804.5:c.1480del MANE Select | ENSP00000354720.5:p.Gln494AsnfsTer13 | |
| ENST00000361804.4:c.1480del | ENSP00000354720.4:p.Gln494AsnfsTer13 | |
| NM_005445.3:c.1480del , LRG_774t1:c.1480del | NP_005436.1:p.Gln494AsnfsTer13 | |
| NM_005445.4:c.1480del MANE Select | NP_005436.1:p.Gln494AsnfsTer13 |