gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010254 (AFR)
Genomes Max Group AF
0.00011275 (AFR)
Exomes Max Group AF
0.00003983 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154273610dup , CM000663.2:g.154273610dup | GRCh38 |
| NC_000001.10:g.154246086dup , CM000663.1:g.154246086dup | GRCh37 |
| NC_000001.9:g.152512710dup | NCBI36 |
| NG_007369.1:g.6048dup , LRG_64:g.6048dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435087.2:c.252+76dup | ENSP00000394920.2:n.252+76dup | |
| ENST00000447768.7:c.252+76dup | ENSP00000403848.2:n.252+76dup | |
| ENST00000459914.2:n.417+12dup | ||
| ENST00000471326.6:n.992+12dup | ||
| ENST00000477780.3:n.415dup | ||
| ENST00000483970.7:c.316+12dup | ENSP00000435088.1:n.316+12dup | |
| ENST00000531435.6:n.498dup | ||
| ENST00000696929.1:c.316+12dup | ENSP00000512978.1:n.316+12dup | |
| ENST00000696931.1:n.417+12dup | ||
| ENST00000696932.1:c.316+12dup | ENSP00000512979.1:n.316+12dup | |
| ENST00000696933.1:c.316+12dup | ENSP00000512980.1:n.316+12dup | |
| ENST00000696938.1:c.316+12dup | ENSP00000512983.1:n.316+12dup | |
| ENST00000696941.1:c.238+12dup | ENSP00000512986.1:n.238+12dup | |
| ENST00000696944.1:c.238+12dup | ENSP00000512989.1:n.238+12dup | |
| ENST00000696945.1:c.238+12dup | ENSP00000512990.1:n.238+12dup | |
| ENST00000696965.1:c.238+12dup | ENSP00000513004.1:n.238+12dup | |
| ENST00000696966.1:c.174+76dup | ENSP00000513005.1:n.174+76dup | |
| ENST00000697592.1:c.238+12dup | ENSP00000513356.1:n.238+12dup | |
| ENST00000697830.1:c.238+12dup | ENSP00000513452.1:n.238+12dup | |
| ENST00000328703.12:c.316+12dup MANE Select | ENSP00000329002.7:n.316+12dup | |
| ENST00000328703.11:c.316+12dup | ENSP00000329002.7:n.316+12dup | |
| ENST00000435087.1:c.252+76dup | ENSP00000394920.1:n.252+76dup | |
| ENST00000447768.6:c.252+76dup | ENSP00000403848.2:n.252+76dup | |
| ENST00000457918.6:c.172+12dup | ENSP00000411448.2:n.172+12dup | |
| ENST00000471326.5:n.731+12dup | ||
| ENST00000477780.2:n.415dup | ||
| ENST00000483970.6:c.316+12dup | ENSP00000435088.1:n.316+12dup | |
| ENST00000531435.5:n.423dup | ||
| ENST00000532105.1:c.-68-164dup | ENSP00000433951.1:n.-68-164dup | |
| NM_001018837.1:c.172+12dup | NP_001018238.1:n.172+12dup | |
| NM_006118.3:c.316+12dup , LRG_64t1:c.316+12dup | NP_006109.2:n.316+12dup | |
| NM_001018837.2:c.172+12dup | NP_001018238.1:n.172+12dup | |
| NM_006118.4:c.316+12dup MANE Select | NP_006109.2:n.316+12dup |