Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159326916del , CM000667.2:g.159326916del | GRCh38 |
| NC_000005.9:g.158753924del , CM000667.1:g.158753924del | GRCh37 |
| NC_000005.8:g.158686502del | NCBI36 |
| NG_009618.1:g.8566del , LRG_71:g.8566del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-149+3524del | ENSP00000512849.1:n.-149+3524del | |
| ENST00000696751.1:c.1-126del | ENSP00000512850.1:n.1-126del | |
| ENST00000696752.1:n.433-126del | ||
| ENST00000231228.3:c.1-126del MANE Select | ENSP00000231228.2:n.1-126del | |
| ENST00000231228.2:c.1-126del | ENSP00000231228.2:n.1-126del | |
| NM_002187.2:c.1-126del , LRG_71t1:c.1-126del | NP_002178.2:n.1-126del | |
| NM_002187.3:c.1-126del MANE Select | NP_002178.2:n.1-126del |