Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667164dup , CM000683.2:g.31667164dup | GRCh38 |
| NC_000021.8:g.33039477dup , CM000683.1:g.33039477dup | GRCh37 |
| NC_000021.7:g.31961348dup | NCBI36 |
| NG_008689.1:g.12543dup , LRG_652:g.12543dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.240-94dup MANE Select | ENSP00000270142.7:n.240-94dup | |
| ENST00000270142.10:c.240-94dup | ENSP00000270142.6:n.240-94dup | |
| ENST00000389995.4:c.183-94dup | ENSP00000374645.4:n.183-94dup | |
| ENST00000470944.1:n.1168-94dup | ||
| ENST00000476106.5:n.503-94dup | ||
| NM_000454.4:c.240-94dup , LRG_652t1:c.240-94dup | NP_000445.1:n.240-94dup | |
| NM_000454.5:c.240-94dup MANE Select | NP_000445.1:n.240-94dup |