Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114330_140114337dup , CM000667.2:g.140114330_140114337dup | GRCh38 |
| NC_000005.9:g.139493915_139493922dup , CM000667.1:g.139493915_139493922dup | GRCh37 |
| NC_000005.8:g.139474099_139474106dup | NCBI36 |
| NG_041813.1:g.5208_5215dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.149_156dup MANE Select | ENSP00000332706.3:p.Gly53ProfsTer28 | |
| ENST00000505703.2:c.149_156dup | ENSP00000498560.1:p.Gly53ProfsTer28 | |
| ENST00000651386.1:c.149_156dup | ENSP00000499133.1:p.Gly53ProfsTer28 | |
| ENST00000331327.4:c.149_156dup | ENSP00000332706.3:p.Gly53ProfsTer28 | |
| NM_005859.4:c.149_156dup | NP_005850.1:p.Gly53ProfsTer28 | |
| NM_005859.5:c.149_156dup MANE Select | NP_005850.1:p.Gly53ProfsTer28 |