Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533560_7533561delinsAG , CM000681.2:g.7533560_7533561delinsAG | GRCh38 |
| NC_000019.9:g.7598446_7598447delinsAG , CM000681.1:g.7598446_7598447delinsAG | GRCh37 |
| NC_000019.8:g.7504446_7504447delinsAG | NCBI36 |
| NG_013374.1:g.4409_4410delinsAG | |
| NG_015806.1:g.15951_15952delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1613_1614delinsAG MANE Select | ENSP00000264079.5:p.Gln538= | |
| ENST00000264079.10:c.1613_1614delinsAG | ENSP00000264079.5:p.Gln538= | |
| ENST00000394321.9:n.1928_1929delinsAG | ||
| ENST00000599334.1:c.341_342delinsAG | ||
| ENST00000602227.1:n.167_168delinsAG | ||
| NM_020533.2:c.1613_1614delinsAG | NP_065394.1:p.Gln538= | |
| NM_020533.3:c.1613_1614delinsAG MANE Select | NP_065394.1:p.Gln538= |