Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117837018del , CM000670.2:g.117837018del | GRCh38 |
| NC_000008.10:g.118849257del , CM000670.1:g.118849257del | GRCh37 |
| NC_000008.9:g.118918438del | NCBI36 |
| NG_007455.2:g.279804del , LRG_493:g.279804del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.523+92del | ||
| ENST00000378204.7:c.1056+92del MANE Select | ENSP00000367446.3:n.1056+92del | |
| ENST00000436216.2:c.424+92del | ||
| ENST00000378204.6:c.1056+92del | ENSP00000367446.2:n.1056+92del | |
| ENST00000436216.1:c.424+92del | ||
| ENST00000437196.1:c.74-1465del | ENSP00000407299.1:n.74-1465del | |
| NM_000127.2:c.1056+92del , LRG_493t1:c.1056+92del | NP_000118.2:n.1056+92del | |
| NM_000127.3:c.1056+92del MANE Select | NP_000118.2:n.1056+92del |