ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43084852_43094147del , CM000679.2:g.43084852_43094147del | GRCh38 |
| NC_000017.10:g.41236869_41246164del , CM000679.1:g.41236869_41246164del | GRCh37 |
| NC_000017.9:g.38490395_38499690del | NCBI36 |
| NG_005905.2:g.123838_133133del , LRG_292:g.123838_133133del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.1385_4186-2276del | ||
| ENST00000470026.6:c.1385_4186-2276del | ||
| ENST00000473961.6:c.1259_4060-2276del | ||
| ENST00000476777.6:c.1382_4183-2279del | ||
| ENST00000477152.6:c.1307_4108-2276del | ||
| ENST00000478531.6:c.784+598_874-2276del | ||
| ENST00000489037.2:c.1307_4108-2276del | ||
| ENST00000493919.6:c.646+598_736-2276del | ||
| ENST00000494123.6:c.1385_4186-2276del | ||
| ENST00000497488.2:c.497_3298-2276del | ||
| ENST00000618469.2:c.1385_4186-2276del | ||
| ENST00000634433.2:c.1262_4063-2276del | ||
| ENST00000644379.2:c.1385_4186-2276del | ||
| ENST00000644555.2:c.646+598_736-2276del | ||
| ENST00000652672.2:c.1244_4045-2276del | ||
| ENST00000484087.6:c.664+598_754-2279del | ||
| ENST00000700182.1:c.706+598_796-2276del | ||
| ENST00000357654.9:c.1385_4186-2276del | ||
| ENST00000471181.7:c.1385_4186-2276del | ||
| ENST00000352993.7:c.670+1700_760-2276del | ||
| ENST00000357654.7:c.1385_4186-2276del | ||
| ENST00000461221.5:c.*1168_*3969-2276del | ||
| ENST00000468300.5:c.787+598_877-2276del | ||
| ENST00000471181.6:c.1385_4186-2276del | ||
| ENST00000478531.5:c.784+598_874-2276del | ||
| ENST00000484087.5:c.409+598_499-2276del | ||
| ENST00000487825.5:c.412+598_502-2276del | ||
| ENST00000491747.6:c.787+598_877-2276del | ||
| ENST00000493795.5:c.1244_4045-2276del | ||
| ENST00000493919.5:c.646+598_736-2276del | ||
| ENST00000586385.5:c.5-30195_5-20900del | ENSP00000465818.1:n.5-30195_5-20900del | |
| ENST00000591534.5:c.-43-19625_-43-10330del | ENSP00000467329.1:n.-43-19625_-43-10330del | |
| ENST00000591849.5:c.-99+31125_-98-34661del | ENSP00000465347.1:n.-99+31125_-98-34661del | |
| NM_007294.3:c.1385_4186-2276del , LRG_292t1:c.1385_4186-2276del | ||
| NM_007297.3:c.1244_4045-2276del | ||
| NM_007298.3:c.787+598_877-2276del | ||
| NM_007299.3:c.787+598_877-2276del | ||
| NM_007300.3:c.1385_4186-2276del | ||
| NR_027676.1:n.1521_4322-2276del | ||
| NM_007294.4:c.1385_4186-2276del | ||
| NM_007297.4:c.1244_4045-2276del | ||
| NM_007299.4:c.787+598_877-2276del | ||
| NM_007300.4:c.1385_4186-2276del | ||
| NR_027676.2:n.1562_4363-2276del |