Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21009433_21009434insGAGACCGAATG , CM000664.2:g.21009433_21009434insGAGACCGAATG | GRCh38 |
| NC_000002.11:g.21232305_21232306insGAGACCGAATG , CM000664.1:g.21232305_21232306insGAGACCGAATG | GRCh37 |
| NC_000002.10:g.21085810_21085811insGAGACCGAATG | NCBI36 |
| NG_011793.1:g.39640_39641insCATTCGGTCTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.7434_7435insCATTCGGTCTC MANE Select | ENSP00000233242.1:p.Val2479HisfsTer15 | |
| ENST00000616098.4:c.7434_7435insCATTCGGTCTC | ENSP00000477990.1:p.Val2479HisfsTer15 | |
| NM_000384.2:c.7434_7435insCATTCGGTCTC | NP_000375.2:p.Val2479HisfsTer15 | |
| XM_011532809.1:c.5869+1299_5869+1300insCATTCGGTCTC | XP_011531111.1:n.5869+1299_5869+1300insCATTCGGTCTC | |
| NM_000384.3:c.7434_7435insCATTCGGTCTC MANE Select | NP_000375.3:p.Val2479HisfsTer15 |