Linked Data
PubMed:
PMID:20301614
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946021_138946062delinsCGCGGCTGCAGCCGCAGCTGCTGCAGCCGCTGCGGCTGCCGC , CM000665.2:g.138946021_138946062delinsCGCGGCTGCAGCCGCAGCTGCTGCAGCCGCTGCGGCTGCCGC | GRCh38 |
| NC_000003.11:g.138664863_138664904delinsCGCGGCTGCAGCCGCAGCTGCTGCAGCCGCTGCGGCTGCCGC , CM000665.1:g.138664863_138664904delinsCGCGGCTGCAGCCGCAGCTGCTGCAGCCGCTGCGGCTGCCGC | GRCh37 |
| NC_000003.10:g.140147553_140147594delinsCGCGGCTGCAGCCGCAGCTGCTGCAGCCGCTGCGGCTGCCGC | NCBI36 |
| NG_012454.1:g.6079_6120delinsGCGGCAGCCGCAGCGGCTGCAGCAGCTGCGGCTGCAGCCGCG | |
| NG_029796.1:g.3788_3829delinsCGCGGCTGCAGCCGCAGCTGCTGCAGCCGCTGCGGCTGCCGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.661_702delinsGCGGCAGCCGCAGCGGCTGCAGCAGCTGCGGCTGCAGCCGCG MANE Select | ENSP00000497217.1:p.Ala221= | |
| ENST00000330315.3:c.661_702delinsGCGGCAGCCGCAGCGGCTGCAGCAGCTGCGGCTGCAGCCGCG | ENSP00000333188.3:p.Ala221= | |
| NM_023067.3:c.661_702delinsGCGGCAGCCGCAGCGGCTGCAGCAGCTGCGGCTGCAGCCGCG | NP_075555.1:p.Ala221= | |
| NM_023067.4:c.661_702delinsGCGGCAGCCGCAGCGGCTGCAGCAGCTGCGGCTGCAGCCGCG MANE Select | NP_075555.1:p.Ala221= |