ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104776256_104776257delinsCC , CM000676.2:g.104776256_104776257delinsCC | GRCh38 |
| NC_000014.8:g.105242593_105242594delinsCC , CM000676.1:g.105242593_105242594delinsCC | GRCh37 |
| NC_000014.7:g.104313638_104313639delinsCC | NCBI36 |
| NG_012188.1:g.24488_24489delinsGG , LRG_721:g.24488_24489delinsGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554192.6:c.287+402_287+403delinsGG | ENSP00000450681.3:n.287+402_287+403delinsGG | |
| ENST00000554585.6:c.287+402_287+403delinsGG | ENSP00000481526.2:n.287+402_287+403delinsGG | |
| ENST00000555458.6:c.287+402_287+403delinsGG | ENSP00000451470.3:n.287+402_287+403delinsGG | |
| ENST00000553797.2:c.287+402_287+403delinsGG | ENSP00000507566.1:n.287+402_287+403delinsGG | |
| ENST00000554826.2:n.425+402_425+403delinsGG | ||
| ENST00000610370.2:n.425+402_425+403delinsGG | ||
| ENST00000682269.1:n.804+402_804+403delinsGG | ||
| ENST00000683722.1:c.287+402_287+403delinsGG | ENSP00000507879.1:n.287+402_287+403delinsGG | |
| ENST00000407796.7:c.287+402_287+403delinsGG | ENSP00000384293.2:n.287+402_287+403delinsGG | |
| ENST00000649815.2:c.287+402_287+403delinsGG MANE Select | ENSP00000497822.1:n.287+402_287+403delinsGG | |
| ENST00000349310.7:c.287+402_287+403delinsGG | ENSP00000270202.4:n.287+402_287+403delinsGG | |
| ENST00000402615.6:c.287+402_287+403delinsGG | ENSP00000385326.2:n.287+402_287+403delinsGG | |
| ENST00000407796.6:c.287+402_287+403delinsGG | ENSP00000384293.2:n.287+402_287+403delinsGG | |
| ENST00000544168.5:n.222+402_222+403delinsGG | ||
| ENST00000554581.5:c.287+402_287+403delinsGG | ENSP00000451828.1:n.287+402_287+403delinsGG | |
| ENST00000554826.1:n.36+402_36+403delinsGG | ||
| ENST00000554848.5:c.287+402_287+403delinsGG | ENSP00000451166.1:n.287+402_287+403delinsGG | |
| ENST00000555380.1:n.318+402_318+403delinsGG | ||
| ENST00000555528.5:c.287+402_287+403delinsGG | ENSP00000450688.1:n.287+402_287+403delinsGG | |
| ENST00000557552.1:n.2315_2316delinsGG | ||
| NM_001014431.1:c.287+402_287+403delinsGG | NP_001014431.1:n.287+402_287+403delinsGG | |
| NM_001014432.1:c.287+402_287+403delinsGG , LRG_721t1:c.287+402_287+403delinsGG | NP_001014432.1:n.287+402_287+403delinsGG | |
| NM_005163.2:c.287+402_287+403delinsGG , LRG_721t2:c.287+402_287+403delinsGG | NP_005154.2:n.287+402_287+403delinsGG | |
| XM_005267401.1:c.287+402_287+403delinsGG | XP_005267458.1:n.287+402_287+403delinsGG | |
| XM_011536543.1:c.287+402_287+403delinsGG | XP_011534845.1:n.287+402_287+403delinsGG | |
| XM_011536544.1:c.287+402_287+403delinsGG | XP_011534846.1:n.287+402_287+403delinsGG | |
| XR_002957536.1:n.487+402_487+403delinsGG | ||
| NM_001014431.2:c.287+402_287+403delinsGG | NP_001014431.1:n.287+402_287+403delinsGG | |
| NM_001014432.2:c.287+402_287+403delinsGG | NP_001014432.1:n.287+402_287+403delinsGG | |
| NM_001382430.1:c.287+402_287+403delinsGG MANE Select | NP_001369359.1:n.287+402_287+403delinsGG | |
| NM_001382431.1:c.287+402_287+403delinsGG | NP_001369360.1:n.287+402_287+403delinsGG | |
| NM_001382432.1:c.287+402_287+403delinsGG | NP_001369361.1:n.287+402_287+403delinsGG | |
| NM_001382433.1:c.287+402_287+403delinsGG | NP_001369362.1:n.287+402_287+403delinsGG |