Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159316072_159316073delinsTC , CM000667.2:g.159316072_159316073delinsTC | GRCh38 |
| NC_000005.9:g.158743080_158743081delinsTC , CM000667.1:g.158743080_158743081delinsTC | GRCh37 |
| NC_000005.8:g.158675658_158675659delinsTC | NCBI36 |
| NG_009618.1:g.19401_19402delinsGA , LRG_71:g.19401_19402delinsGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696750.1:c.*28_*29delinsGA | ENSP00000512849.1:n.*28_*29delinsGA | |
| ENST00000696751.1:c.*510_*511delinsGA | ENSP00000512850.1:n.*510_*511delinsGA | |
| ENST00000231228.3:c.*28_*29delinsGA MANE Select | ENSP00000231228.2:n.*28_*29delinsGA | |
| ENST00000231228.2:c.*28_*29delinsGA | ENSP00000231228.2:n.*28_*29delinsGA | |
| NM_002187.2:c.*28_*29delinsGA , LRG_71t1:c.*28_*29delinsGA | NP_002178.2:n.*28_*29delinsGA | |
| NM_002187.3:c.*28_*29delinsGA MANE Select | NP_002178.2:n.*28_*29delinsGA |