Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21011381_21011382delinsTC , CM000664.2:g.21011381_21011382delinsTC | GRCh38 |
| NC_000002.11:g.21234253_21234254delinsTC , CM000664.1:g.21234253_21234254delinsTC | GRCh37 |
| NC_000002.10:g.21087758_21087759delinsTC | NCBI36 |
| NG_011793.1:g.37692_37693delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*4792_*4793delinsGA | ENSP00000501110.2:n.*4792_*4793delinsGA | |
| ENST00000673739.1:c.5200_5201delinsGA | ENSP00000501110.1:n.5200_5201delinsGA | |
| ENST00000233242.5:c.5486_5487delinsGA MANE Select | ENSP00000233242.1:p.Gly1829= | |
| ENST00000616098.4:c.5486_5487delinsGA | ENSP00000477990.1:p.Gly1829= | |
| NM_000384.2:c.5486_5487delinsGA | NP_000375.2:p.Gly1829= | |
| XM_011532809.1:c.5486_5487delinsGA | XP_011531111.1:p.Gly1829= | |
| NM_000384.3:c.5486_5487delinsGA MANE Select | NP_000375.3:p.Gly1829= |