Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117819749dup , CM000670.2:g.117819749dup | GRCh38 |
| NC_000008.10:g.118831988dup , CM000670.1:g.118831988dup | GRCh37 |
| NC_000008.9:g.118901169dup | NCBI36 |
| NG_007455.2:g.297076dup , LRG_493:g.297076dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.1468dup MANE Select | NP_000118.2:p.Leu490ProfsTer? |
| ENST00000378204.7:c.1468dup MANE Select | ENSP00000367446.3:p.Leu490ProfsTer? |
| NM_000127.2:c.1468dup , LRG_493t1:c.1468dup | NP_000118.2:p.Leu490ProfsTer? |
| ENST00000378204.6:c.1468dup | ENSP00000367446.2:p.Leu490ProfsTer? |
| ENST00000437196.1:c.*359dup | ENSP00000407299.1:n.*359dup |
| ENST00000684189.1:n.935dup |