Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767607_28767615dup , CM000676.2:g.28767607_28767615dup | GRCh38 |
| NC_000014.8:g.29236813_29236821dup , CM000676.1:g.29236813_29236821dup | GRCh37 |
| NC_000014.7:g.28306564_28306572dup | NCBI36 |
| NG_009367.1:g.5527_5535dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.328_336dup | ENSP00000516406.1:p.Pro112_Ala113insProProPro | |
| ENST00000313071.7:c.328_336dup MANE Select | ENSP00000339004.3:p.Pro112_Ala113insProProPro | |
| ENST00000313071.6:c.328_336dup | ENSP00000339004.3:p.Pro112_Ala113insProProPro | |
| NM_005249.4:c.328_336dup | NP_005240.3:p.Pro112_Ala113insProProPro | |
| NM_005249.5:c.328_336dup MANE Select | NP_005240.3:p.Pro112_Ala113insProProPro |