gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767514_28767519dup , CM000676.2:g.28767514_28767519dup | GRCh38 |
| NC_000014.8:g.29236720_29236725dup , CM000676.1:g.29236720_29236725dup | GRCh37 |
| NC_000014.7:g.28306471_28306476dup | NCBI36 |
| NG_009367.1:g.5434_5439dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.235_240dup | ENSP00000516406.1:p.Pro80_Ala81insProPro | |
| ENST00000313071.7:c.235_240dup MANE Select | ENSP00000339004.3:p.Pro80_Ala81insProPro | |
| ENST00000313071.6:c.235_240dup | ENSP00000339004.3:p.Pro80_Ala81insProPro | |
| NM_005249.4:c.235_240dup | NP_005240.3:p.Pro80_Ala81insProPro | |
| NM_005249.5:c.235_240dup MANE Select | NP_005240.3:p.Pro80_Ala81insProPro |