Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659959_31659960insCC , CM000683.2:g.31659959_31659960insCC | GRCh38 |
| NC_000021.8:g.33032272_33032273insCC , CM000683.1:g.33032272_33032273insCC | GRCh37 |
| NC_000021.7:g.31954143_31954144insCC | NCBI36 |
| NG_008689.1:g.5338_5339insCC , LRG_652:g.5338_5339insCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.72+118_72+119insCC MANE Select | ENSP00000270142.7:n.72+118_72+119insCC | |
| ENST00000270142.10:c.72+118_72+119insCC | ENSP00000270142.6:n.72+118_72+119insCC | |
| ENST00000389995.4:c.15+175_15+176insCC | ENSP00000374645.4:n.15+175_15+176insCC | |
| ENST00000470944.1:n.251_252insCC | ||
| ENST00000476106.5:n.149+118_149+119insCC | ||
| NM_000454.4:c.72+118_72+119insCC , LRG_652t1:c.72+118_72+119insCC | NP_000445.1:n.72+118_72+119insCC | |
| NM_000454.5:c.72+118_72+119insCC MANE Select | NP_000445.1:n.72+118_72+119insCC |