Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92518252_92518264del , CM000669.2:g.92518252_92518264del | GRCh38 |
| NC_000007.13:g.92147566_92147578del , CM000669.1:g.92147566_92147578del | GRCh37 |
| NC_000007.12:g.91985502_91985514del | NCBI36 |
| NG_008341.1:g.15270_15282del | |
| NG_008341.2:g.15270_15282del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.358-7_363del | ||
| ENST00000248633.8:c.358-7_363del | ||
| ENST00000428214.5:c.358-7_363del | ||
| ENST00000438045.5:c.273+3840_273+3852del | ENSP00000410438.1:n.273+3840_273+3852del | |
| ENST00000484913.5:n.397-7_402del | ||
| NM_000466.2:c.358-7_363del | ||
| NM_001282677.1:c.358-7_363del | ||
| NM_001282678.1:c.-267-7_-262del | ||
| XR_242246.3:n.454-7_459del | ||
| XR_242246.5:n.405-7_410del | ||
| NM_000466.3:c.358-7_363del | ||
| NM_001282677.2:c.358-7_363del | ||
| NM_001282678.2:c.-267-7_-262del |