Linked Data
dbSNP Id:
rs2123997509
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904722_154904723insTTCACGATATTGATTCTTCCTACCCATGA , CM000685.2:g.154904722_154904723insTTCACGATATTGATTCTTCCTACCCATGA | GRCh38 |
| NC_000023.10:g.154132997_154132998insTTCACGATATTGATTCTTCCTACCCATGA , CM000685.1:g.154132997_154132998insTTCACGATATTGATTCTTCCTACCCATGA | GRCh37 |
| NC_000023.9:g.153786191_153786192insTTCACGATATTGATTCTTCCTACCCATGA | NCBI36 |
| NG_011403.1:g.123001_123002insTCATGGGTAGGAAGAATCAATATCGTGAA | |
| NG_011403.2:g.123001_123002insTCATGGGTAGGAAGAATCAATATCGTGAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5586+88_5586+89insTCATGGGTAGGAAGAATCAATATCGTGAA MANE Select | ENSP00000353393.4:n.5586+88_5586+89insTCATGGGTAGGAAGAATCAATAT... | |
| ENST00000360256.8:c.5586+88_5586+89insTCATGGGTAGGAAGAATCAATATCGTGAA | ENSP00000353393.4:n.5586+88_5586+89insTCATGGGTAGGAAGAATCAATAT... | |
| NM_000132.3:c.5586+88_5586+89insTCATGGGTAGGAAGAATCAATATCGTGAA | NP_000123.1:n.5586+88_5586+89insTCATGGGTAGGAAGAATCAATATCGTGAA... | |
| XM_011531126.1:c.5481+88_5481+89insTCATGGGTAGGAAGAATCAATATCGTGAA | XP_011529428.1:n.5481+88_5481+89insTCATGGGTAGGAAGAATCAATATCGT... | |
| NM_000132.4:c.5586+88_5586+89insTCATGGGTAGGAAGAATCAATATCGTGAA MANE Select | NP_000123.1:n.5586+88_5586+89insTCATGGGTAGGAAGAATCAATATCGTGAA... |