gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000923 (AFR)
Genomes Max Group AF
0.00001336 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367173_38367174insA , CM000685.2:g.38367173_38367174insA | GRCh38 |
| NC_000023.10:g.38226426_38226427insA , CM000685.1:g.38226426_38226427insA | GRCh37 |
| NC_000023.9:g.38111370_38111371insA | NCBI36 |
| NG_008471.1:g.19691_19692insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.78-118_78-117insA MANE Select | ENSP00000039007.4:n.78-118_78-117insA | |
| ENST00000643344.1:c.78-118_78-117insA | ENSP00000496606.1:n.78-118_78-117insA | |
| ENST00000039007.4:c.78-118_78-117insA | ENSP00000039007.4:n.78-118_78-117insA | |
| ENST00000465127.1:c.172-298948_172-298947insA | ENSP00000417050.1:n.172-298948_172-298947insA | |
| ENST00000488812.1:n.170-118_170-117insA | ||
| NM_000531.5:c.78-118_78-117insA | NP_000522.3:n.78-118_78-117insA | |
| XM_017029556.1:c.78-118_78-117insA | XP_016885045.1:n.78-118_78-117insA | |
| NM_000531.6:c.78-118_78-117insA MANE Select | NP_000522.3:n.78-118_78-117insA |