Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008205_88008206delinsGA , CM000666.2:g.88008205_88008206delinsGA | GRCh38 |
| NC_000004.11:g.88929357_88929358delinsGA , CM000666.1:g.88929357_88929358delinsGA | GRCh37 |
| NC_000004.10:g.89148381_89148382delinsGA | NCBI36 |
| NG_008604.1:g.5538_5539delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.472_473delinsGA MANE Select | ENSP00000237596.2:p.Glu158= | |
| ENST00000237596.6:c.472_473delinsGA | ENSP00000237596.2:p.Glu158= | |
| NM_000297.3:c.472_473delinsGA | NP_000288.1:p.Glu158= | |
| XM_011532028.1:c.472_473delinsGA | XP_011530330.1:p.Glu158= | |
| XR_244632.2:n.567_568delinsGA | ||
| NR_156488.1:n.559_560delinsGA | ||
| XM_011532028.2:c.472_473delinsGA | XP_011530330.1:p.Glu158= | |
| NM_000297.4:c.472_473delinsGA MANE Select | NP_000288.1:p.Glu158= | |
| NR_156488.2:n.571_572delinsGA |