Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045016_5045017insAACCAAACACACCCAACACA , CM000674.2:g.5045016_5045017insAACCAAACACACCCAACACA | GRCh38 |
| NC_000012.11:g.5154182_5154183insAACCAAACACACCCAACACA , CM000674.1:g.5154182_5154183insAACCAAACACACCCAACACA | GRCh37 |
| NC_000012.10:g.5024443_5024444insAACCAAACACACCCAACACA | NCBI36 |
| NG_012198.1:g.6098_6099insAACCAAACACACCCAACACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.869_870insAACCAAACACACCCAACACA MANE Select | ENSP00000252321.3:p.Pro291ThrfsTer? | |
| ENST00000252321.4:c.869_870insAACCAAACACACCCAACACA | ENSP00000252321.3:p.Pro291ThrfsTer? | |
| NM_002234.3:c.869_870insAACCAAACACACCCAACACA | NP_002225.2:p.Pro291ThrfsTer? | |
| NM_002234.4:c.869_870insAACCAAACACACCCAACACA MANE Select | NP_002225.2:p.Pro291ThrfsTer? |