Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271131dup , CM000668.2:g.31271131dup | GRCh38 |
| NC_000006.11:g.31238908dup , CM000668.1:g.31238908dup | GRCh37 |
| NC_000006.10:g.31346887dup | NCBI36 |
| NG_029422.2:g.6001dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.561dup MANE Select | ENSP00000365402.5:p.Cys188ValfsTer? | |
| ENST00000376228.9:c.561dup | ENSP00000365402.5:p.Cys188ValfsTer? | |
| ENST00000376237.8:c.*148dup | ENSP00000365412.4:n.*148dup | |
| ENST00000383329.7:c.561dup | ENSP00000372819.3:p.Cys188ValfsTer? | |
| ENST00000415537.1:c.559dup | ||
| ENST00000484378.1:n.830dup | ||
| ENST00000487245.5:n.920dup | ||
| ENST00000495835.1:n.750dup | ||
| NM_002117.5:c.561dup | NP_002108.4:p.Cys188ValfsTer? | |
| NM_002117.6:c.561dup MANE Select | NP_002108.4:p.Cys188ValfsTer? |