MyVariant.info:
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.64591465_64591472dup , CM000668.2:g.64591465_64591472dup | GRCh38 |
| NC_000006.11:g.65301358_65301365dup , CM000668.1:g.65301358_65301365dup | GRCh37 |
| NC_000006.10:g.65358079_65358086dup | NCBI36 |
| NG_023443.1:g.1120754_1120761dup | |
| NG_023443.2:g.1120754_1120761dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.4395_4402dup MANE Select | ENSP00000424243.1:p.Asp1468ValfsTer13 | |
| ENST00000370616.6:c.4395_4402dup | ENSP00000359650.2:p.Asp1468ValfsTer13 | |
| ENST00000370618.7:c.4395_4402dup | ENSP00000359652.4:p.Asp1468ValfsTer13 | |
| ENST00000370621.7:c.4395_4402dup | ENSP00000359655.3:p.Asp1468ValfsTer13 | |
| ENST00000503581.5:c.4395_4402dup | ENSP00000424243.1:p.Asp1468ValfsTer13 | |
| NM_001142800.1:c.4395_4402dup | NP_001136272.1:p.Asp1468ValfsTer13 | |
| NM_001292009.1:c.4395_4402dup | NP_001278938.1:p.Asp1468ValfsTer13 | |
| NM_001142800.2:c.4395_4402dup MANE Select | NP_001136272.1:p.Asp1468ValfsTer13 | |
| NM_001292009.2:c.4395_4402dup | NP_001278938.1:p.Asp1468ValfsTer13 |