Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176118897_176118899delinsAAC , CM000664.2:g.176118897_176118899delinsAAC | GRCh38 |
| NC_000002.11:g.176983625_176983627delinsAAC , CM000664.1:g.176983625_176983627delinsAAC | GRCh37 |
| NC_000002.10:g.176691871_176691873delinsAAC | NCBI36 |
| NG_008133.2:g.12134_12136delinsAAC , LRG_246:g.12134_12136delinsAAC | |
| NG_009225.1:g.1213_1215delinsAAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249501.5:c.746-57_746-55delinsAAC MANE Select | ENSP00000249501.4:n.746-57_746-55delinsAAC | |
| ENST00000249501.4:c.746-57_746-55delinsAAC | ENSP00000249501.4:n.746-57_746-55delinsAAC | |
| ENST00000490088.2:n.570-57_570-55delinsAAC | ||
| ENST00000549469.1:n.617-57_617-55delinsAAC | ||
| NM_002148.3:c.746-57_746-55delinsAAC , LRG_246t1:c.746-57_746-55delinsAAC | NP_002139.2:n.746-57_746-55delinsAAC | |
| NM_002148.4:c.746-57_746-55delinsAAC MANE Select | NP_002139.2:n.746-57_746-55delinsAAC |