Linked Data
ClinVar Variation Id:
427649
ClinVar RCV Id:
RCV000497959
dbSNP Id:
rs1554614423
PubMed:
PMID:28795510
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671043_86671044delinsTCACCAGGA , CM000670.2:g.86671043_86671044delinsTCACCAGGA | GRCh38 |
| NC_000008.10:g.87683271_87683272delinsTCACCAGGA , CM000670.1:g.87683271_87683272delinsTCACCAGGA | GRCh37 |
| NC_000008.9:g.87752387_87752388delinsTCACCAGGA | NCBI36 |
| NG_016980.1:g.77632_77633delinsTCCTGGTGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.393_394delinsTCCTGGTGA MANE Select | ENSP00000316605.5:p.Gln131HisfsTer? | |
| ENST00000680314.1:n.154_155delinsTCCTGGTGA | ||
| ENST00000681746.1:c.393_394delinsTCCTGGTGA | ENSP00000505959.1:p.Gln131HisfsTer? | |
| ENST00000320005.5:c.393_394delinsTCCTGGTGA | ENSP00000316605.5:p.Gln131HisfsTer? | |
| NM_019098.4:c.393_394delinsTCCTGGTGA | NP_061971.3:p.Gln131HisfsTer? | |
| XM_011517138.1:c.-22_-21delinsTCCTGGTGA | XP_011515440.1:n.-22_-21delinsTCCTGGTGA | |
| XM_011517138.2:c.-22_-21delinsTCCTGGTGA | XP_011515440.1:n.-22_-21delinsTCCTGGTGA | |
| NM_019098.5:c.393_394delinsTCCTGGTGA MANE Select | NP_061971.3:p.Gln131HisfsTer? |