Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208124220_208124221delinsCT , CM000664.2:g.208124220_208124221delinsCT | GRCh38 |
| NC_000002.11:g.208988944_208988945delinsCT , CM000664.1:g.208988944_208988945delinsCT | GRCh37 |
| NC_000002.10:g.208697189_208697190delinsCT | NCBI36 |
| NG_008039.1:g.5369_5370delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264376.5:c.143_144delinsAG MANE Select | ENSP00000264376.4:p.Gln48= | |
| ENST00000264376.4:c.143_144delinsAG | ENSP00000264376.4:p.Gln48= | |
| NM_006891.3:c.143_144delinsAG | NP_008822.2:p.Gln48= | |
| NR_038437.1:n.97+4995_97+4996delinsCT | ||
| NM_006891.4:c.143_144delinsAG MANE Select | NP_008822.2:p.Gln48= |