Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028774_135028775insA , CM000667.2:g.135028774_135028775insA | GRCh38 |
| NC_000005.9:g.134364464_134364465insA , CM000667.1:g.134364464_134364465insA | GRCh37 |
| NC_000005.8:g.134392363_134392364insA | NCBI36 |
| NG_012114.1:g.10500_10501insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*4_*5insT MANE Select | ENSP00000265340.6:n.*4_*5insT | |
| ENST00000265340.11:c.*4_*5insT | ENSP00000265340.6:n.*4_*5insT | |
| ENST00000506438.5:c.*4_*5insT | ENSP00000427542.1:n.*4_*5insT | |
| NM_002653.4:c.*4_*5insT | NP_002644.4:n.*4_*5insT | |
| NM_002653.5:c.*4_*5insT MANE Select | NP_002644.4:n.*4_*5insT |