Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648207_69648208insA , CM000673.2:g.69648207_69648208insA | GRCh38 |
| NC_000011.9:g.69462975_69462976insA , CM000673.1:g.69462975_69462976insA | GRCh37 |
| NC_000011.8:g.69172156_69172157insA | NCBI36 |
| NG_007375.1:g.12103_12104insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+65_723+66insA MANE Select | ENSP00000227507.2:n.723+65_723+66insA | |
| ENST00000227507.2:c.723+65_723+66insA | ENSP00000227507.2:n.723+65_723+66insA | |
| ENST00000536559.1:c.*208_*209insA | ENSP00000438482.1:n.*208_*209insA | |
| ENST00000542367.1:n.186+65_186+66insA | ||
| NM_053056.2:c.723+65_723+66insA | NP_444284.1:n.723+65_723+66insA | |
| XM_006718653.2:c.747+65_747+66insA | XP_006718716.1:n.747+65_747+66insA | |
| NM_053056.3:c.723+65_723+66insA MANE Select | NP_444284.1:n.723+65_723+66insA |