MutSpliceDB:
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241506000_241506001delinsCC , CM000663.2:g.241506000_241506001delinsCC | GRCh38 |
| NC_000001.10:g.241669300_241669301delinsCC , CM000663.1:g.241669300_241669301delinsCC | GRCh37 |
| NC_000001.9:g.239735923_239735924delinsCC | NCBI36 |
| NG_012338.1:g.18754_18755delinsGG , LRG_504:g.18754_18755delinsGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1407+2_1407+3delinsGG | ||
| ENST00000682162.1:c.933+2_933+3delinsGG | ENSP00000508203.1:n.933+2_933+3delinsGG | |
| ENST00000682567.1:n.981+2_981+3delinsGG | ||
| ENST00000683521.1:c.904+2_904+3delinsGG | ENSP00000506864.1:n.904+2_904+3delinsGG | |
| ENST00000684161.1:n.2119+2_2119+3delinsGG | ||
| ENST00000684483.1:c.*300+2_*300+3delinsGG | ENSP00000507894.1:n.*300+2_*300+3delinsGG | |
| ENST00000366560.4:c.904+2_904+3delinsGG MANE Select | ENSP00000355518.4:n.904+2_904+3delinsGG | |
| ENST00000366560.3:c.904+2_904+3delinsGG | ENSP00000355518.3:n.904+2_904+3delinsGG | |
| NM_000143.3:c.904+2_904+3delinsGG , LRG_504t1:c.904+2_904+3delinsGG | NP_000134.2:n.904+2_904+3delinsGG | |
| XM_011544132.1:c.676+2_676+3delinsGG | XP_011542434.1:n.676+2_676+3delinsGG | |
| XM_011544132.2:c.676+2_676+3delinsGG | XP_011542434.1:n.676+2_676+3delinsGG | |
| NM_000143.4:c.904+2_904+3delinsGG MANE Select | NP_000134.2:n.904+2_904+3delinsGG |