Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136055630dup , CM000667.2:g.136055630dup | GRCh38 |
| NC_000005.9:g.135391319dup , CM000667.1:g.135391319dup | GRCh37 |
| NC_000005.8:g.135419218dup | NCBI36 |
| NG_012646.1:g.31736dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.1411-50dup MANE Select | ENSP00000416330.2:n.1411-50dup | |
| ENST00000442011.6:c.1411-50dup | ENSP00000416330.2:n.1411-50dup | |
| ENST00000506699.5:n.1928-50dup | ||
| ENST00000507018.5:c.1389-50dup | ||
| ENST00000509485.5:c.326-50dup | ||
| ENST00000514242.5:n.132dup | ||
| ENST00000514554.5:c.563-50dup | ||
| NM_000358.2:c.1411-50dup | NP_000349.1:n.1411-50dup | |
| NM_000358.3:c.1411-50dup MANE Select | NP_000349.1:n.1411-50dup |