Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29222407_29222409dup , CM000664.2:g.29222407_29222409dup | GRCh38 |
| NC_000002.11:g.29445273_29445275dup , CM000664.1:g.29445273_29445275dup | GRCh37 |
| NC_000002.10:g.29298777_29298779dup | NCBI36 |
| NG_009445.1:g.704159_704161dup , LRG_488:g.704159_704161dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001353765.1:c.247_249dup | |
| NM_001353765.2:c.247_249dup | |
| NM_004304.4:c.3451_3453dup | |
| NM_004304.5:c.3451_3453dup | |
| ENST00000389048.7:c.3451_3453dup | |
| ENST00000389048.8:c.3451_3453dup | |
| ENST00000431873.5:c.331_333dup | |
| ENST00000431873.6:c.678_680dup | |
| ENST00000453137.1:c.145_147dup | |
| ENST00000618119.4:c.2320_2322dup | |
| ENST00000638605.1:n.328_330dup | |
| ENST00000642122.1:c.247_249dup | |
| XM_024452778.1:c.604_606dup | |
| XM_024452779.1:c.247_249dup |