Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.93585452dup , CM000667.2:g.93585452dup | GRCh38 |
| NC_000005.9:g.92921158dup , CM000667.1:g.92921158dup | GRCh37 |
| NC_000005.8:g.92946914dup | NCBI36 |
| NG_034119.1:g.7116dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615873.2:c.354dup | ENSP00000481517.1:p.Lys119GlnfsTer? | |
| ENST00000327111.8:c.429dup MANE Select | ENSP00000325819.3:p.Lys144GlnfsTer? | |
| ENST00000647447.1:c.276dup | ENSP00000495740.1:p.Lys93GlnfsTer? | |
| ENST00000327111.7:c.429dup | ENSP00000325819.3:p.Lys144GlnfsTer? | |
| ENST00000615873.1:c.354dup | ENSP00000481517.1:p.Lys119GlnfsTer? | |
| NM_005654.5:c.429dup | NP_005645.1:p.Lys144GlnfsTer? | |
| NM_005654.6:c.429dup MANE Select | NP_005645.1:p.Lys144GlnfsTer? |