gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001221 (NFE)
Exomes Max Group AF
0.00001214 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44293060_44293061insA , CM000683.2:g.44293060_44293061insA | GRCh38 |
| NC_000021.8:g.45712943_45712944insA , CM000683.1:g.45712943_45712944insA | GRCh37 |
| NC_000021.7:g.44537371_44537372insA | NCBI36 |
| NG_009556.1:g.12181_12182insA , LRG_18:g.12181_12182insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.1163_1164insA MANE Select | ENSP00000291582.5:p.Met388IlefsTer? | |
| ENST00000291582.5:c.1163_1164insA | ENSP00000291582.5:p.Met388IlefsTer? | |
| ENST00000337909.5:n.624_625insA | ||
| ENST00000397994.8:n.589+35_589+36insA | ||
| ENST00000527919.5:n.1893_1894insA | ||
| ENST00000530812.5:n.2910_2911insA | ||
| NM_000383.3:c.1163_1164insA | NP_000374.1:p.Met388IlefsTer? | |
| XM_011529551.1:c.1160_1161insA | XP_011527853.1:p.Met387IlefsTer? | |
| NM_000383.4:c.1163_1164insA MANE Select | NP_000374.1:p.Met388IlefsTer? |