MyVariant.info:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000674 (SAS)
Exomes Max Group AF
0.00000747 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98593383_98593387dup , CM000665.2:g.98593383_98593387dup | GRCh38 |
| NC_000003.11:g.98312227_98312231dup , CM000665.1:g.98312227_98312231dup | GRCh37 |
| NC_000003.10:g.99794917_99794921dup | NCBI36 |
| NG_015994.1:g.5234_5238dup | |
| NG_015994.2:g.5234_5238dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647941.2:c.127_131dup MANE Select | ENSP00000497326.1:p.Gly45GlnfsTer? | |
| ENST00000264193.2:c.127_131dup | ENSP00000264193.2:p.Gly45GlnfsTer? | |
| ENST00000513674.1:c.127_131dup | ENSP00000424924.1:p.Gly45GlnfsTer? | |
| ENST00000515041.1:n.233_237dup | ||
| NM_000097.5:c.127_131dup | NP_000088.3:p.Gly45GlnfsTer? | |
| XM_005247125.3:c.127_131dup | XP_005247182.1:p.Gly45GlnfsTer? | |
| XM_011512437.1:c.127_131dup | XP_011510739.1:p.Gly45GlnfsTer? | |
| NM_000097.7:c.127_131dup MANE Select | NP_000088.3:p.Gly45GlnfsTer? | |
| XM_005247125.4:c.127_131dup | XP_005247182.1:p.Gly45GlnfsTer? | |
| XR_001740025.2:n.298_302dup | ||
| XR_001740026.1:n.303_307dup | ||
| XR_001740027.1:n.307_311dup | ||
| XR_001740028.1:n.307_311dup |