Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74713460_74713461delinsTG , CM000678.2:g.74713460_74713461delinsTG | GRCh38 |
| NC_000016.9:g.74747358_74747359delinsTG , CM000678.1:g.74747358_74747359delinsTG | GRCh37 |
| NC_000016.8:g.73304859_73304860delinsTG | NCBI36 |
| NG_017070.1:g.66371_66372delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.*729_*730delinsCA MANE Select | ENSP00000219368.3:n.*729_*730delinsCA | |
| ENST00000219368.7:c.*729_*730delinsCA | ENSP00000219368.3:n.*729_*730delinsCA | |
| ENST00000562145.1:n.1569_1570delinsCA | ||
| NM_024306.4:c.*729_*730delinsCA | NP_077282.3:n.*729_*730delinsCA | |
| XM_011523319.1:c.*729_*730delinsCA | XP_011521621.1:n.*729_*730delinsCA | |
| XM_011523319.2:c.*729_*730delinsCA | XP_011521621.1:n.*729_*730delinsCA | |
| NM_024306.5:c.*729_*730delinsCA MANE Select | NP_077282.3:n.*729_*730delinsCA |