Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130441215dup , CM000669.2:g.130441215dup | GRCh38 |
| NC_000007.13:g.130081056dup , CM000669.1:g.130081056dup | GRCh37 |
| NC_000007.12:g.129868292dup | NCBI36 |
| NG_032164.1:g.4996dup | |
| NG_032164.2:g.4996dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000223208.9:c.-249dup | ENSP00000223208.4:n.-249dup |
| ENST00000477003.5:c.24+1182dup | ENSP00000420670.1:n.24+1182dup |
| ENST00000541543.6:c.24+1182dup | ENSP00000445888.2:n.24+1182dup |
| ENST00000675138.1:c.78+443dup | ENSP00000501597.1:n.78+443dup |
| ENST00000675596.1:c.-249dup | ENSP00000501735.1:n.-249dup |
| ENST00000676312.1:c.-189dup | ENSP00000502312.1:n.-189dup |
| XM_011516708.1:c.78+443dup | XP_011515010.1:n.78+443dup |
| XM_011516712.1:c.78+443dup | XP_011515014.1:n.78+443dup |