Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414517_1414518dup , CM000667.2:g.1414517_1414518dup | GRCh38 |
| NC_000005.9:g.1414632_1414633dup , CM000667.1:g.1414632_1414633dup | GRCh37 |
| NC_000005.8:g.1467632_1467633dup | NCBI36 |
| NG_015885.1:g.35914_35915dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+176_1156+177dup MANE Select | ENSP00000270349.9:n.1156+176_1156+177dup | |
| ENST00000270349.11:c.1156+176_1156+177dup | ENSP00000270349.9:n.1156+176_1156+177dup | |
| NM_001044.4:c.1156+176_1156+177dup | NP_001035.1:n.1156+176_1156+177dup | |
| NM_001044.5:c.1156+176_1156+177dup MANE Select | NP_001035.1:n.1156+176_1156+177dup |