Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877167_240877168dup , CM000664.2:g.240877167_240877168dup | GRCh38 |
| NC_000002.11:g.241816584_241816585dup , CM000664.1:g.241816584_241816585dup | GRCh37 |
| NC_000002.10:g.241465257_241465258dup | NCBI36 |
| NG_008005.1:g.13423_13424dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.847-370_847-369dup MANE Select | ENSP00000302620.3:n.847-370_847-369dup | |
| ENST00000307503.3:c.847-370_847-369dup | ENSP00000302620.3:n.847-370_847-369dup | |
| ENST00000470255.1:n.255_256dup | ||
| NM_000030.2:c.847-370_847-369dup | NP_000021.1:n.847-370_847-369dup | |
| NM_000030.3:c.847-370_847-369dup MANE Select | NP_000021.1:n.847-370_847-369dup |