Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135817964_135817965delinsCC , CM000664.2:g.135817964_135817965delinsCC | GRCh38 |
| NC_000002.11:g.136575534_136575535delinsCC , CM000664.1:g.136575534_136575535delinsCC | GRCh37 |
| NC_000002.10:g.136292004_136292005delinsCC | NCBI36 |
| NG_008104.2:g.42205_42206delinsGG , LRG_338:g.42205_42206delinsGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.1083_1084delinsGG MANE Select | ENSP00000264162.2:p.Ile362Val | |
| ENST00000264162.6:c.1083_1084delinsGG | ENSP00000264162.2:p.Ile362Val | |
| NM_002299.2:c.1083_1084delinsGG , LRG_338t1:c.1083_1084delinsGG | NP_002290.2:p.Ile362Val | |
| NM_002299.3:c.1083_1084delinsGG | NP_002290.2:p.Ile362Val | |
| XM_017004088.2:c.1083_1084delinsGG | XP_016859577.1:p.Ile362Val | |
| NM_002299.4:c.1083_1084delinsGG MANE Select | NP_002290.2:p.Ile362Val |