ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868952_240868999delinsGTCTCACCCATGTTCCCACCCACA , CM000664.2:g.240868952_240868999delinsGTCTCACCCATGTTCCCACCCACA | GRCh38 |
| NC_000002.11:g.241808369_241808416delinsGTCTCACCCATGTTCCCACCCACA , CM000664.1:g.241808369_241808416delinsGTCTCACCCATGTTCCCACCCACA | GRCh37 |
| NC_000002.10:g.241457042_241457089delinsGTCTCACCCATGTTCCCACCCACA | NCBI36 |
| NG_008005.1:g.5208_5255delinsGTCTCACCCATGTTCCCACCCACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.87_134delinsGTCTCACCCATGTTCCCACCCACA MANE Select | ENSP00000302620.3:p.Pro30_Met45delinsSerHisProCysSerHisProGln... | |
| ENST00000307503.3:c.87_134delinsGTCTCACCCATGTTCCCACCCACA | ENSP00000302620.3:p.Pro30_Met45delinsSerHisProCysSerHisProGln... | |
| ENST00000472436.1:n.107_154delinsGTCTCACCCATGTTCCCACCCACA | ||
| NM_000030.2:c.87_134delinsGTCTCACCCATGTTCCCACCCACA | NP_000021.1:p.Pro30_Met45delinsSerHisProCysSerHisProGln | |
| XR_924060.1:n.405+1234_405+1281delinsTGTGGGTGGGAACATGGGTGAGAC | ||
| NM_000030.3:c.87_134delinsGTCTCACCCATGTTCCCACCCACA MANE Select | NP_000021.1:p.Pro30_Met45delinsSerHisProCysSerHisProGln |