Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117835496del , CM000670.2:g.117835496del | GRCh38 |
| NC_000008.10:g.118847735del , CM000670.1:g.118847735del | GRCh37 |
| NC_000008.9:g.118916916del | NCBI36 |
| NG_007455.2:g.281324del , LRG_493:g.281324del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.579del | ||
| ENST00000378204.7:c.1112del MANE Select | ENSP00000367446.3:p.Val371GlyfsTer10 | |
| ENST00000436216.2:c.480del | ||
| ENST00000378204.6:c.1112del | ENSP00000367446.2:p.Val371GlyfsTer10 | |
| ENST00000436216.1:c.480del | ||
| ENST00000437196.1:c.*3del | ENSP00000407299.1:n.*3del | |
| NM_000127.2:c.1112del , LRG_493t1:c.1112del | NP_000118.2:p.Val371GlyfsTer10 | |
| NM_000127.3:c.1112del MANE Select | NP_000118.2:p.Val371GlyfsTer10 |