Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135789830_135789831delinsTC , CM000664.2:g.135789830_135789831delinsTC | GRCh38 |
| NC_000002.11:g.136547400_136547401delinsTC , CM000664.1:g.136547400_136547401delinsTC | GRCh37 |
| NC_000002.10:g.136263870_136263871delinsTC | NCBI36 |
| NG_008104.2:g.70339_70340delinsGA , LRG_338:g.70339_70340delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.5336-33_5336-32delinsGA MANE Select | ENSP00000264162.2:n.5336-33_5336-32delinsGA | |
| ENST00000264162.6:c.5336-33_5336-32delinsGA | ENSP00000264162.2:n.5336-33_5336-32delinsGA | |
| NM_002299.2:c.5336-33_5336-32delinsGA , LRG_338t1:c.5336-33_5336-32delinsGA | NP_002290.2:n.5336-33_5336-32delinsGA | |
| NM_002299.3:c.5336-33_5336-32delinsGA | NP_002290.2:n.5336-33_5336-32delinsGA | |
| NM_002299.4:c.5336-33_5336-32delinsGA MANE Select | NP_002290.2:n.5336-33_5336-32delinsGA |