Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.841806_841807dup , CM000671.2:g.841806_841807dup | GRCh38 |
| NC_000009.11:g.841806_841807dup , CM000671.1:g.841806_841807dup | GRCh37 |
| NC_000009.10:g.831806_831807dup | NCBI36 |
| NG_009221.1:g.5117_5118dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382276.8:c.-33_-32dup MANE Select | ENSP00000371711.3:n.-33_-32dup | |
| ENST00000382276.7:c.-33_-32dup | ENSP00000371711.3:n.-33_-32dup | |
| ENST00000564322.1:n.117_118dup | ||
| NM_021951.2:c.-33_-32dup | NP_068770.2:n.-33_-32dup | |
| XM_006716732.1:c.-33_-32dup | XP_006716795.1:n.-33_-32dup | |
| XM_017014375.1:c.-33_-32dup | XP_016869864.1:n.-33_-32dup | |
| NM_021951.3:c.-33_-32dup MANE Select | NP_068770.2:n.-33_-32dup |