Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146194_38146226del , CM000670.2:g.38146194_38146226del | GRCh38 |
| NC_000008.10:g.38003712_38003744del , CM000670.1:g.38003712_38003744del | GRCh37 |
| NC_000008.9:g.38122869_38122901del | NCBI36 |
| NG_011827.1:g.9857_9889del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.465+63_466-47del MANE Select | ENSP00000276449.3:n.465+63_466-47del | |
| ENST00000276449.8:c.465+63_466-47del | ENSP00000276449.3:n.465+63_466-47del | |
| ENST00000520114.1:n.952+63_953-47del | ||
| ENST00000522050.1:c.401+63_402-47del | ||
| NM_000349.2:c.465+63_466-47del | NP_000340.2:n.465+63_466-47del | |
| XM_006716392.1:c.465+63_466-47del | XP_006716455.1:n.465+63_466-47del | |
| NM_000349.3:c.465+63_466-47del MANE Select | NP_000340.2:n.465+63_466-47del |