Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172660153dup , CM000663.2:g.172660153dup | GRCh38 |
| NC_000001.10:g.172629293dup , CM000663.1:g.172629293dup | GRCh37 |
| NC_000001.9:g.170895916dup | NCBI36 |
| NG_007269.1:g.6109dup , LRG_58:g.6109dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000639.3:c.394+13dup MANE Select | NP_000630.1:n.394+13dup |
| ENST00000367721.3:c.394+13dup MANE Select | ENSP00000356694.2:n.394+13dup |
| NM_000639.2:c.394+13dup | NP_000630.1:n.394+13dup |
| NM_001302746.1:c.348+604dup | NP_001289675.1:n.348+604dup |
| NM_001302746.2:c.348+604dup | NP_001289675.1:n.348+604dup |
| ENST00000340030.4:c.348+604dup | ENSP00000344739.3:n.348+604dup |
| ENST00000367721.2:c.394+13dup | ENSP00000356694.2:n.394+13dup |