Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23419476_23419477insCTGCCGGGACA , CM000676.2:g.23419476_23419477insCTGCCGGGACA | GRCh38 |
| NC_000014.8:g.23888685_23888686insCTGCCGGGACA , CM000676.1:g.23888685_23888686insCTGCCGGGACA | GRCh37 |
| NC_000014.7:g.22958525_22958526insCTGCCGGGACA | NCBI36 |
| NG_007884.1:g.21185_21186insTGTCCCGGCAG , LRG_384:g.21185_21186insTGTCCCGGCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3853+6_3853+7insTGTCCCGGCAG MANE Select | ENSP00000347507.3:n.3853+6_3853+7insTGTCCCGGCAG | |
| ENST00000355349.3:c.3853+6_3853+7insTGTCCCGGCAG | ENSP00000347507.3:n.3853+6_3853+7insTGTCCCGGCAG | |
| NM_000257.3:c.3853+6_3853+7insTGTCCCGGCAG | NP_000248.2:n.3853+6_3853+7insTGTCCCGGCAG | |
| XM_017021340.1:c.3853+6_3853+7insTGTCCCGGCAG | XP_016876829.1:n.3853+6_3853+7insTGTCCCGGCAG | |
| NM_000257.4:c.3853+6_3853+7insTGTCCCGGCAG MANE Select | NP_000248.2:n.3853+6_3853+7insTGTCCCGGCAG |