gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94447362_94447369del , CM000673.2:g.94447362_94447369del | GRCh38 |
| NC_000011.9:g.94180528_94180535del , CM000673.1:g.94180528_94180535del | GRCh37 |
| NC_000011.8:g.93820176_93820183del | NCBI36 |
| NG_007261.1:g.51506_51513del , LRG_85:g.51506_51513del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323929.8:c.1633_1640del MANE Select | ENSP00000325863.4:p.Leu545TyrfsTer9 | |
| ENST00000323929.7:c.1633_1640del | ENSP00000325863.3:p.Leu545TyrfsTer9 | |
| ENST00000323977.7:c.1633_1640del | ENSP00000326094.3:p.Leu545TyrfsTer9 | |
| ENST00000393241.8:c.1633_1640del | ENSP00000376933.4:p.Leu545TyrfsTer9 | |
| ENST00000407439.7:c.1642_1649del | ENSP00000385614.3:p.Leu548TyrfsTer9 | |
| NM_005590.3:c.1633_1640del | NP_005581.2:p.Leu545TyrfsTer9 | |
| NM_005591.3:c.1633_1640del , LRG_85t1:c.1633_1640del | NP_005582.1:p.Leu545TyrfsTer9 | |
| XM_005274008.2:c.1165_1172del | XP_005274065.1:p.Leu389TyrfsTer9 | |
| XM_006718842.2:c.1633_1640del | XP_006718905.1:p.Leu545TyrfsTer9 | |
| XM_011542837.1:c.1633_1640del | XP_011541139.1:p.Leu545TyrfsTer9 | |
| XR_947828.1:n.1929_1936del | ||
| NM_001330347.1:c.1633_1640del | NP_001317276.1:p.Leu545TyrfsTer9 | |
| XM_005274008.3:c.1165_1172del | XP_005274065.1:p.Leu389TyrfsTer9 | |
| XM_006718842.3:c.1633_1640del | XP_006718905.1:p.Leu545TyrfsTer9 | |
| XM_011542837.2:c.1633_1640del | XP_011541139.1:p.Leu545TyrfsTer9 | |
| XM_017017772.1:c.1633_1640del | XP_016873261.1:p.Leu545TyrfsTer9 | |
| XR_947828.2:n.1929_1936del | ||
| NM_001330347.2:c.1633_1640del | NP_001317276.1:p.Leu545TyrfsTer9 | |
| NM_005590.4:c.1633_1640del | NP_005581.2:p.Leu545TyrfsTer9 | |
| NM_005591.4:c.1633_1640del MANE Select | NP_005582.1:p.Leu545TyrfsTer9 |