Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215799212_215799213insCAG , CM000663.2:g.215799212_215799213insCAG | GRCh38 |
| NC_000001.10:g.215972554_215972555insCAG , CM000663.1:g.215972554_215972555insCAG | GRCh37 |
| NC_000001.9:g.214039177_214039178insCAG | NCBI36 |
| NG_009497.1:g.629184_629185insCTG | |
| NG_009497.2:g.629236_629237insCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9740-88_9740-87insCTG MANE Select | ENSP00000305941.3:n.9740-88_9740-87insCTG | |
| ENST00000674083.1:c.9740-88_9740-87insCTG | ENSP00000501296.1:n.9740-88_9740-87insCTG | |
| ENST00000307340.7:c.9740-88_9740-87insCTG | ENSP00000305941.3:n.9740-88_9740-87insCTG | |
| NM_206933.2:c.9740-88_9740-87insCTG | NP_996816.2:n.9740-88_9740-87insCTG | |
| NM_206933.3:c.9740-88_9740-87insCTG | NP_996816.2:n.9740-88_9740-87insCTG | |
| NM_206933.4:c.9740-88_9740-87insCTG MANE Select | NP_996816.3:n.9740-88_9740-87insCTG |