Linked Data
ExAC:
22:50659521 GCTGATGCTGGCATTGGATACGTGTCCGTGGGTGTTCCACCGTGGCTGGGTGGGAGCCACATCTGACACATTCTCCCCGACC / G
gnomAD v2:
22-50659521-GCTGATGCTGGCATTGGATACGTGTCCGTGGGTGTTCCACCGTGGCTGGGTGGGAGCCACATCTGACACATTCTCCCCGACC-G
gnomAD v4:
22-50221092-GCTGATGCTGGCATTGGATACGTGTCCGTGGGTGTTCCACCGTGGCTGGGTGGGAGCCACATCTGACACATTCTCCCCGACC-G
MyVariant Identifiers:
chr22:g.50659522_50659602del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50221104_50221184del , CM000684.2:g.50221104_50221184del | GRCh38 |
| NC_000022.10:g.50659533_50659613del , CM000684.1:g.50659533_50659613del | GRCh37 |
| NC_000022.9:g.49001660_49001740del | NCBI36 |
| NG_032160.1:g.28799_28879del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3186_3266del MANE Select | ENSP00000248846.5:p.Arg1062_Ile1088del | |
| ENST00000248846.9:c.3186_3266del | ENSP00000248846.5:p.Arg1062_Ile1088del | |
| ENST00000439308.6:c.3186_3266del | ENSP00000397387.2:p.Arg1062_Ile1088del | |
| ENST00000491449.5:n.1493_1573del | ||
| ENST00000498611.5:n.3617+102_3617+182del | ||
| NM_020461.3:c.3186_3266del | NP_065194.2:p.Arg1062_Ile1088del | |
| XR_938347.1:n.3751_3831del | ||
| XR_938348.1:n.3049+855_3049+935del | ||
| XR_001755343.2:n.3755_3835del | ||
| XR_001755344.2:n.3755_3835del | ||
| XR_002958720.1:n.3053+855_3053+935del | ||
| XR_938347.2:n.3755_3835del | ||
| NM_020461.4:c.3186_3266del MANE Select | NP_065194.3:p.Arg1062_Ile1088del |