Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714300_6714303dup , CM000681.2:g.6714300_6714303dup | GRCh38 |
| NC_000019.9:g.6714311_6714314dup , CM000681.1:g.6714311_6714314dup | GRCh37 |
| NC_000019.8:g.6665311_6665314dup | NCBI36 |
| NG_009557.1:g.11352_11355dup , LRG_27:g.11352_11355dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.477-52_477-49dup | ENSP00000512083.1:n.477-52_477-49dup | |
| ENST00000245907.11:c.600-52_600-49dup MANE Select | ENSP00000245907.4:n.600-52_600-49dup | |
| ENST00000245907.10:c.600-52_600-49dup | ENSP00000245907.4:n.600-52_600-49dup | |
| ENST00000595577.1:n.52_55dup | ||
| NM_000064.3:c.600-52_600-49dup | NP_000055.2:n.600-52_600-49dup | |
| NM_000064.4:c.600-52_600-49dup MANE Select | NP_000055.2:n.600-52_600-49dup |