Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877865_240877868dup , CM000664.2:g.240877865_240877868dup | GRCh38 |
| NC_000002.11:g.241817282_241817285dup , CM000664.1:g.241817282_241817285dup | GRCh37 |
| NC_000002.10:g.241465955_241465958dup | NCBI36 |
| NG_008005.1:g.14121_14124dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.943-157_943-154dup MANE Select | ENSP00000302620.3:n.943-157_943-154dup | |
| ENST00000307503.3:c.943-157_943-154dup | ENSP00000302620.3:n.943-157_943-154dup | |
| ENST00000470255.1:n.721-157_721-154dup | ||
| NM_000030.2:c.943-157_943-154dup | NP_000021.1:n.943-157_943-154dup | |
| NM_000030.3:c.943-157_943-154dup MANE Select | NP_000021.1:n.943-157_943-154dup |