Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021388_94021389delinsCC , CM000663.2:g.94021388_94021389delinsCC | GRCh38 |
| NC_000001.10:g.94486944_94486945delinsCC , CM000663.1:g.94486944_94486945delinsCC | GRCh37 |
| NC_000001.9:g.94259532_94259533delinsCC | NCBI36 |
| NG_009073.1:g.104761_104762delinsGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4869_4870delinsGG MANE Select | ENSP00000359245.3:p.Trp1624Gly | |
| ENST00000370225.3:c.4869_4870delinsGG | ENSP00000359245.3:p.Trp1624Gly | |
| ENST00000460514.1:n.363_364delinsGG | ||
| ENST00000536513.5:c.1245_1246delinsGG | ENSP00000439707.2:p.Trp416Gly | |
| NM_000350.2:c.4869_4870delinsGG | NP_000341.2:p.Trp1624Gly | |
| NM_000350.3:c.4869_4870delinsGG MANE Select | NP_000341.2:p.Trp1624Gly |