Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071037_29071038insAGA , CM000664.2:g.29071037_29071038insAGA | GRCh38 |
| NC_000002.11:g.29293903_29293904insAGA , CM000664.1:g.29293903_29293904insAGA | GRCh37 |
| NC_000002.10:g.29147407_29147408insAGA | NCBI36 |
| NG_021427.1:g.8224_8225insTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3224_3225insTCT MANE Select | ENSP00000332809.4:p.Thr1075_Gln1076insLeu | |
| ENST00000331664.5:c.3224_3225insTCT | ENSP00000332809.4:p.Thr1075_Gln1076insLeu | |
| NM_001029883.2:c.3224_3225insTCT | NP_001025054.1:p.Thr1075_Gln1076insLeu | |
| XM_011532826.1:c.3224_3225insTCT | XP_011531128.1:p.Thr1075_Gln1076insLeu | |
| XR_939901.1:n.185+1870_185+1871insAGA | ||
| XR_939902.1:n.173+1882_173+1883insAGA | ||
| NM_001029883.3:c.3224_3225insTCT MANE Select | NP_001025054.1:p.Thr1075_Gln1076insLeu |