gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004767 (NFE)
Genomes Max Group AF
0.00004767 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.85753058del , CM000666.2:g.85753058del | GRCh38 |
| NC_000004.11:g.86674211del , CM000666.1:g.86674211del | GRCh37 |
| NC_000004.10:g.86893235del | NCBI36 |
| NG_051627.1:g.282928del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395184.6:c.268+31086del MANE Select | ENSP00000378611.1:n.268+31086del | |
| ENST00000395184.5:c.268+31086del | ENSP00000378611.1:n.268+31086del | |
| ENST00000503995.5:c.268+31086del | ENSP00000423206.1:n.268+31086del | |
| ENST00000512201.5:c.-18+31086del | ENSP00000426105.1:n.-18+31086del | |
| NM_001025616.2:c.268+31086del | NP_001020787.2:n.268+31086del | |
| XM_005263263.3:c.268+31086del | XP_005263320.1:n.268+31086del | |
| XM_024454238.1:c.-18+31086del | XP_024310006.1:n.-18+31086del | |
| XM_024454239.1:c.-18+31086del | XP_024310007.1:n.-18+31086del | |
| NM_001025616.3:c.268+31086del MANE Select | NP_001020787.2:n.268+31086del |