ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232531450_232531451delinsAG , CM000664.2:g.232531450_232531451delinsAG | GRCh38 |
| NC_000002.11:g.233396160_233396161delinsAG , CM000664.1:g.233396160_233396161delinsAG | GRCh37 |
| NC_000002.10:g.233104404_233104405delinsAG | NCBI36 |
| NG_008028.1:g.10239_10240delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258385.8:c.919_920delinsAG MANE Select | ENSP00000258385.3:p.Pro307Ser | |
| ENST00000258385.7:c.919_920delinsAG | ENSP00000258385.3:p.Pro307Ser | |
| ENST00000412233.5:c.*92_*93delinsAG | ENSP00000398143.1:n.*92_*93delinsAG | |
| ENST00000441621.6:c.*101_*102delinsAG | ENSP00000408819.2:n.*101_*102delinsAG | |
| ENST00000446616.1:c.*560_*561delinsAG | ENSP00000410801.1:n.*560_*561delinsAG | |
| ENST00000543200.5:c.874_875delinsAG | ENSP00000438380.1:p.Pro292Ser | |
| NM_000751.2:c.919_920delinsAG | NP_000742.1:p.Pro307Ser | |
| NM_001256657.1:c.874_875delinsAG | NP_001243586.1:p.Pro292Ser | |
| NM_001311195.1:c.337_338delinsAG | NP_001298124.1:p.Pro113Ser | |
| NM_001311196.1:c.616_617delinsAG | NP_001298125.1:p.Pro206Ser | |
| NR_046333.1:c.-4294966632_-4294966631delinsAG | ||
| NR_046334.1:c.-4294966353_-4294966352delinsAG | ||
| XM_011510524.1:c.538_539delinsAG | XP_011508826.1:p.Pro180Ser | |
| XM_011510524.2:c.538_539delinsAG | XP_011508826.1:p.Pro180Ser | |
| NM_000751.3:c.919_920delinsAG MANE Select | NP_000742.1:p.Pro307Ser | |
| NM_001311195.2:c.337_338delinsAG | NP_001298124.1:p.Pro113Ser | |
| NM_001311196.2:c.616_617delinsAG | NP_001298125.1:p.Pro206Ser | |
| NM_001256657.2:c.874_875delinsAG | NP_001243586.1:p.Pro292Ser |