Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745715dup , CM000665.2:g.8745715dup | GRCh38 |
| NC_000003.11:g.8787401dup , CM000665.1:g.8787401dup | GRCh37 |
| NC_000003.10:g.8762401dup | NCBI36 |
| NG_008797.2:g.16906dup , LRG_329:g.16906dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.304dup MANE Select | ENSP00000341940.2:p.Ala102GlyfsTer7 | |
| ENST00000343849.2:c.304dup | ENSP00000341940.2:p.Ala102GlyfsTer7 | |
| ENST00000397368.2:c.304dup | ENSP00000380525.2:p.Ala102GlyfsTer7 | |
| ENST00000472766.1:n.155+11725dup | ||
| NM_001234.4:c.304dup | NP_001225.1:p.Ala102GlyfsTer7 | |
| NM_033337.2:c.304dup , LRG_329t1:c.304dup | NP_203123.1:p.Ala102GlyfsTer7 | |
| NM_001234.5:c.304dup | NP_001225.1:p.Ala102GlyfsTer7 | |
| NM_033337.3:c.304dup MANE Select | NP_203123.1:p.Ala102GlyfsTer7 |