ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23623105_23623200del , CM000678.2:g.23623105_23623200del | GRCh38 |
| NC_000016.9:g.23634426_23634521del , CM000678.1:g.23634426_23634521del | GRCh37 |
| NC_000016.8:g.23541927_23542022del | NCBI36 |
| NG_007406.1:g.23158_23253del , LRG_308:g.23158_23253del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.2841-70_2866del | ||
| ENST00000565038.2:c.*316-70_*341del | ||
| ENST00000566069.6:c.2835-70_2860del | ||
| ENST00000697377.2:c.2679-70_2704del | ||
| ENST00000697379.2:c.2841-70_2866del | ||
| ENST00000561514.2:c.1950-70_1975del | ||
| ENST00000697374.1:c.1950-70_1975del | ||
| ENST00000697375.1:n.4182-70_4207del | ||
| ENST00000697376.1:c.1950-70_1975del | ||
| ENST00000697377.1:c.1788-70_1813del | ||
| ENST00000697378.1:n.3355-70_3380del | ||
| ENST00000697379.1:c.1950-70_1975del | ||
| ENST00000697380.1:n.2127-70_2152del | ||
| ENST00000697381.1:n.1530-70_1555del | ||
| ENST00000697382.1:c.1950-70_1975del | ||
| ENST00000697383.1:c.369-70_394del | ||
| ENST00000261584.9:c.2835-70_2860del | ||
| ENST00000261584.8:c.2835-70_2860del | ||
| ENST00000568219.5:c.1950-70_1975del | ||
| NM_024675.3:c.2835-70_2860del , LRG_308t1:c.2835-70_2860del | ||
| XM_011545946.1:c.2841-70_2866del | ||
| XM_011545947.1:c.2841-70_2866del | ||
| XM_011545948.1:c.1950-70_1975del | ||
| XR_950851.1:n.3631-70_3656del | ||
| XM_011545946.2:c.2841-70_2866del | ||
| XM_011545947.2:c.2841-70_2866del | ||
| XM_011545948.2:c.1950-70_1975del | ||
| XM_017023671.1:c.2841-70_2866del | ||
| XM_017023672.2:c.2835-70_2860del | ||
| XM_017023673.2:c.2835-70_2860del | ||
| NM_024675.4:c.2835-70_2860del |