Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48473391dup , CM000675.2:g.48473391dup | GRCh38 |
| NC_000013.10:g.49047527dup , CM000675.1:g.49047527dup | GRCh37 |
| NC_000013.9:g.47945528dup | NCBI36 |
| NG_009009.1:g.174645dup , LRG_517:g.174645dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.2:c.2520+1dup , LRG_517t1:c.2520+1dup | |
| NM_000321.3:c.2520+1dup | |
| ENST00000267163.4:c.2520+1dup | |
| ENST00000267163.6:c.2520+1dup | |
| ENST00000643064.1:c.194+91948dup | |
| ENST00000650461.1:c.2520+1dup | |
| XM_011535171.1:c.2259+1dup | |
| XM_011535171.2:c.2259+1dup |