gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46350458_46350459dup , CM000664.2:g.46350458_46350459dup | GRCh38 |
| NC_000002.11:g.46577597_46577598dup , CM000664.1:g.46577597_46577598dup | GRCh37 |
| NC_000002.10:g.46431101_46431102dup | NCBI36 |
| NG_016000.1:g.58057_58058dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263734.5:c.217+3395_217+3396dup MANE Select | ENSP00000263734.3:n.217+3395_217+3396dup | |
| ENST00000263734.4:c.217+3395_217+3396dup | ENSP00000263734.3:n.217+3395_217+3396dup | |
| ENST00000449347.5:c.217+3395_217+3396dup | ENSP00000406137.1:n.217+3395_217+3396dup | |
| ENST00000475822.1:n.408+3395_408+3396dup | ||
| NM_001430.4:c.217+3395_217+3396dup | NP_001421.2:n.217+3395_217+3396dup | |
| XM_011532698.1:c.256+3395_256+3396dup | XP_011531000.1:n.256+3395_256+3396dup | |
| XM_011532698.2:c.256+3395_256+3396dup | XP_011531000.1:n.256+3395_256+3396dup | |
| NM_001430.5:c.217+3395_217+3396dup MANE Select | NP_001421.2:n.217+3395_217+3396dup |