Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408975_38408976delinsGA , CM000685.2:g.38408975_38408976delinsGA | GRCh38 |
| NC_000023.10:g.38268228_38268229delinsGA , CM000685.1:g.38268228_38268229delinsGA | GRCh37 |
| NC_000023.9:g.38153172_38153173delinsGA | NCBI36 |
| NG_008471.1:g.61493_61494delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.817_818delinsGA MANE Select | ENSP00000039007.4:p.Glu273= | |
| ENST00000643344.1:c.*567_*568delinsGA | ENSP00000496606.1:n.*567_*568delinsGA | |
| ENST00000039007.4:c.817_818delinsGA | ENSP00000039007.4:p.Glu273= | |
| ENST00000465127.1:c.172-257146_172-257145delinsGA | ENSP00000417050.1:n.172-257146_172-257145delinsGA | |
| NM_000531.5:c.817_818delinsGA | NP_000522.3:p.Glu273= | |
| XM_017029556.1:c.817_818delinsGA | XP_016885045.1:p.Glu273= | |
| NM_000531.6:c.817_818delinsGA MANE Select | NP_000522.3:p.Glu273= |