ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23623127_23623139del , CM000678.2:g.23623127_23623139del | GRCh38 |
| NC_000016.9:g.23634448_23634460del , CM000678.1:g.23634448_23634460del | GRCh37 |
| NC_000016.8:g.23541949_23541961del | NCBI36 |
| NG_007406.1:g.23222_23234del , LRG_308:g.23222_23234del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.2841-6_2847del | ||
| ENST00000565038.2:c.*316-6_*322del | ||
| ENST00000566069.6:c.2835-6_2841del | ||
| ENST00000697377.2:c.2679-6_2685del | ||
| ENST00000697379.2:c.2841-6_2847del | ||
| ENST00000561514.2:c.1950-6_1956del | ||
| ENST00000697374.1:c.1950-6_1956del | ||
| ENST00000697375.1:n.4182-6_4188del | ||
| ENST00000697376.1:c.1950-6_1956del | ||
| ENST00000697377.1:c.1788-6_1794del | ||
| ENST00000697378.1:n.3355-6_3361del | ||
| ENST00000697379.1:c.1950-6_1956del | ||
| ENST00000697380.1:n.2127-6_2133del | ||
| ENST00000697381.1:n.1530-6_1536del | ||
| ENST00000697382.1:c.1950-6_1956del | ||
| ENST00000697383.1:c.369-6_375del | ||
| ENST00000261584.9:c.2835-6_2841del | ||
| ENST00000261584.8:c.2835-6_2841del | ||
| ENST00000568219.5:c.1950-6_1956del | ||
| NM_024675.3:c.2835-6_2841del , LRG_308t1:c.2835-6_2841del | ||
| XM_011545946.1:c.2841-6_2847del | ||
| XM_011545947.1:c.2841-6_2847del | ||
| XM_011545948.1:c.1950-6_1956del | ||
| XR_950851.1:n.3631-6_3637del | ||
| XM_011545946.2:c.2841-6_2847del | ||
| XM_011545947.2:c.2841-6_2847del | ||
| XM_011545948.2:c.1950-6_1956del | ||
| XM_017023671.1:c.2841-6_2847del | ||
| XM_017023672.2:c.2835-6_2841del | ||
| XM_017023673.2:c.2835-6_2841del | ||
| NM_024675.4:c.2835-6_2841del |