Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188991428_188991430dup , CM000664.2:g.188991428_188991430dup | GRCh38 |
| NC_000002.11:g.189856154_189856156dup , CM000664.1:g.189856154_189856156dup | GRCh37 |
| NC_000002.10:g.189564399_189564401dup | NCBI36 |
| NG_007404.1:g.22056_22058dup , LRG_3:g.22056_22058dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.853-59_853-57dup | ENSP00000415346.2:n.853-59_853-57dup | |
| ENST00000304636.9:c.853-59_853-57dup MANE Select | ENSP00000304408.4:n.853-59_853-57dup | |
| ENST00000304636.7:c.853-59_853-57dup | ENSP00000304408.3:n.853-59_853-57dup | |
| ENST00000317840.9:c.853-59_853-57dup | ENSP00000315243.6:n.853-59_853-57dup | |
| NM_000090.3:c.853-59_853-57dup , LRG_3t1:c.853-59_853-57dup | NP_000081.1:n.853-59_853-57dup | |
| NM_000090.4:c.853-59_853-57dup MANE Select | NP_000081.2:n.853-59_853-57dup |