Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30221445dup , CM000679.2:g.30221445dup | GRCh38 |
| NC_000017.10:g.28548463dup , CM000679.1:g.28548463dup | GRCh37 |
| NC_000017.9:g.25572589dup | NCBI36 |
| NG_011747.2:g.19494dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650711.1:c.343+173dup MANE Select | ENSP00000498537.1:n.343+173dup | |
| ENST00000261707.7:c.343+173dup | ENSP00000261707.3:n.343+173dup | |
| ENST00000394821.2:c.343+173dup | ENSP00000378298.2:n.343+173dup | |
| ENST00000401766.6:c.343+173dup | ENSP00000385822.2:n.343+173dup | |
| NM_001045.5:c.343+173dup | NP_001036.1:n.343+173dup | |
| NM_001045.6:c.343+173dup MANE Select | NP_001036.1:n.343+173dup |