ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44304281_44304282dup , CM000664.2:g.44304281_44304282dup | GRCh38 |
| NC_000002.11:g.44531420_44531421dup , CM000664.1:g.44531420_44531421dup | GRCh37 |
| NC_000002.10:g.44384924_44384925dup | NCBI36 |
| NG_008233.1:g.33824_33825dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260649.11:c.1275_1276dup MANE Select | ENSP00000260649.6:p.Glu426ValfsTer20 | |
| ENST00000649044.1:c.*1286_*1287dup | ENSP00000497083.1:n.*1286_*1287dup | |
| ENST00000260649.10:c.1275_1276dup | ENSP00000260649.6:p.Glu426ValfsTer20 | |
| ENST00000409229.7:c.1275_1276dup | ENSP00000386620.3:p.Glu426ValfsTer20 | |
| ENST00000409294.5:c.135_136dup | ENSP00000386852.1:p.Glu46ValfsTer20 | |
| ENST00000409380.5:c.441_442dup | ENSP00000386709.1:p.Glu148ValfsTer20 | |
| ENST00000409387.5:c.1275_1276dup | ENSP00000387308.1:p.Glu426ValfsTer20 | |
| ENST00000409740.3:c.168_169dup | ENSP00000386677.3:p.Glu57ValfsTer20 | |
| ENST00000409741.5:c.1275_1276dup | ENSP00000386954.1:p.Glu426ValfsTer20 | |
| ENST00000611973.4:c.1275_1276dup | ENSP00000483618.1:p.Glu426ValfsTer20 | |
| NM_000341.3:c.1275_1276dup | NP_000332.2:p.Glu426ValfsTer20 | |
| XM_011533047.1:c.1275_1276dup | XP_011531349.1:p.Glu426ValfsTer20 | |
| XM_011533047.3:c.1275_1276dup | XP_011531349.1:p.Glu426ValfsTer20 | |
| NM_000341.4:c.1275_1276dup MANE Select | NP_000332.2:p.Glu426ValfsTer20 |