Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152305828_152305846dup , CM000663.2:g.152305828_152305846dup | GRCh38 |
| NC_000001.10:g.152278304_152278322dup , CM000663.1:g.152278304_152278322dup | GRCh37 |
| NC_000001.9:g.150544928_150544946dup | NCBI36 |
| NG_016190.1:g.24360_24378dup , LRG_1028:g.24360_24378dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002016.2:c.9042_9060dup MANE Select | NP_002007.1:p.Gly3021SerfsTer4 |
| ENST00000368799.2:c.9042_9060dup MANE Select | ENSP00000357789.1:p.Gly3021SerfsTer4 |
| NM_002016.1:c.9042_9060dup , LRG_1028t1:c.9042_9060dup | NP_002007.1:p.Gly3021SerfsTer4 |
| ENST00000368799.1:c.9042_9060dup | ENSP00000357789.1:p.Gly3021SerfsTer4 |
| XM_011509329.1:c.9042_9060dup | XP_011507631.1:p.Gly3021SerfsTer4 |