ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31536265dup , CM000680.2:g.31536265dup | GRCh38 |
| NC_000018.9:g.29116228dup , CM000680.1:g.29116228dup | GRCh37 |
| NC_000018.8:g.27370226dup | NCBI36 |
| NG_007072.3:g.43024dup , LRG_397:g.43024dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.1487dup MANE Select | ENSP00000261590.8:p.Cys496TrpfsTer? | |
| ENST00000261590.12:c.1487dup | ENSP00000261590.8:p.Cys496TrpfsTer? | |
| NM_001943.3:c.1487dup , LRG_397t1:c.1487dup | NP_001934.2:p.Cys496TrpfsTer? | |
| NM_001943.4:c.1487dup | NP_001934.2:p.Cys496TrpfsTer? | |
| XM_024451095.1:c.953dup | XP_024306863.1:p.Cys318TrpfsTer? | |
| NM_001943.5:c.1487dup MANE Select | NP_001934.2:p.Cys496TrpfsTer? |