Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38409018_38409019dup , CM000685.2:g.38409018_38409019dup | GRCh38 |
| NC_000023.10:g.38268271_38268272dup , CM000685.1:g.38268271_38268272dup | GRCh37 |
| NC_000023.9:g.38153215_38153216dup | NCBI36 |
| NG_008471.1:g.61536_61537dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.860_861dup MANE Select | ENSP00000039007.4:p.Met288GlnfsTer2 | |
| ENST00000643344.1:c.*610_*611dup | ENSP00000496606.1:n.*610_*611dup | |
| ENST00000039007.4:c.860_861dup | ENSP00000039007.4:p.Met288GlnfsTer2 | |
| ENST00000465127.1:c.172-257103_172-257102dup | ENSP00000417050.1:n.172-257103_172-257102dup | |
| NM_000531.5:c.860_861dup | NP_000522.3:p.Met288GlnfsTer2 | |
| XM_017029556.1:c.860_861dup | XP_016885045.1:p.Met288GlnfsTer2 | |
| NM_000531.6:c.860_861dup MANE Select | NP_000522.3:p.Met288GlnfsTer2 |