MyVariant.info:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000175 (NFE)
Exomes Max Group AF
0.00001775 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.131556272_131556292dup , CM000669.2:g.131556272_131556292dup | GRCh38 |
| NC_000007.13:g.131241031_131241051dup , CM000669.1:g.131241031_131241051dup | GRCh37 |
| NC_000007.12:g.130891571_130891591dup | NCBI36 |
| NG_042104.1:g.5327_5347dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378555.8:c.69_89dup MANE Select | ENSP00000367817.3:p.Pro30_Ser31insProSerProSerProSerPro | |
| ENST00000322985.9:c.69_89dup | ENSP00000319782.9:p.Pro30_Ser31insProSerProSerProSerPro | |
| ENST00000378555.7:c.69_89dup | ENSP00000367817.3:p.Pro30_Ser31insProSerProSerProSerPro | |
| ENST00000446198.5:c.69_89dup | ENSP00000390152.1:p.Pro30_Ser31insProSerProSerProSerPro | |
| ENST00000465001.1:n.291+834_291+854dup | ||
| NM_001018111.2:c.69_89dup | NP_001018121.1:p.Pro30_Ser31insProSerProSerProSerPro | |
| NM_005397.3:c.69_89dup | NP_005388.2:p.Pro30_Ser31insProSerProSerProSerPro | |
| NM_001018111.3:c.69_89dup MANE Select | NP_001018121.1:p.Pro30_Ser31insProSerProSerProSerPro | |
| NM_005397.4:c.69_89dup | NP_005388.2:p.Pro30_Ser31insProSerProSerProSerPro |