Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.49913385dup , CM000684.2:g.49913385dup | GRCh38 |
| NC_000022.10:g.50307033dup , CM000684.1:g.50307033dup | GRCh37 |
| NC_000022.9:g.48693037dup | NCBI36 |
| NG_008927.1:g.10075dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330817.11:c.295+1dup | ||
| ENST00000330817.10:c.295+1dup | ||
| NM_024105.3:c.295+1dup | ||
| XM_011530369.1:c.295+1dup | ||
| XM_011530370.1:c.295+1dup | ||
| XM_011530371.1:c.295+1dup | ||
| XM_011530371.2:c.295+1dup | ||
| XM_017028936.1:c.295+1dup | ||
| XM_017028937.1:c.295+1dup | ||
| NM_024105.4:c.295+1dup |