Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114705880dup , CM000663.2:g.114705880dup | GRCh38 |
| NC_000001.10:g.115248501dup , CM000663.1:g.115248501dup | GRCh37 |
| NC_000001.9:g.115050024dup | NCBI36 |
| NG_007572.1:g.16015dup , LRG_92:g.16015dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.*2214dup MANE Select | ENSP00000358548.4:n.*2214dup | |
| ENST00000369535.4:c.*2214dup | ENSP00000358548.4:n.*2214dup | |
| NM_002524.4:c.*2214dup | NP_002515.1:n.*2214dup | |
| NM_002524.5:c.*2214dup MANE Select | NP_002515.1:n.*2214dup |