ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.133596443_133596602del , CM000685.2:g.133596443_133596602del | GRCh38 |
| NC_000023.10:g.132730471_132730630del , CM000685.1:g.132730471_132730630del | GRCh37 |
| NC_000023.9:g.132558137_132558296del | NCBI36 |
| NG_009286.1:g.394040_394199del , LRG_505:g.394040_394199del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406757.3:c.603_762del | ||
| ENST00000666673.2:n.445_604del | ||
| ENST00000689310.1:c.1366_1525del | ||
| ENST00000692074.1:n.358_517del | ||
| ENST00000692084.1:c.701_860del | ||
| ENST00000370818.8:c.1414_1573del | ||
| ENST00000394299.7:c.1483_1642del | ||
| ENST00000666017.1:n.292_451del | ||
| ENST00000666673.1:n.701_860del | ||
| ENST00000667662.1:n.481_640del | ||
| ENST00000669691.1:n.480_639del | ||
| ENST00000370818.7:c.1414_1573del | ||
| ENST00000394299.6:c.1483_1642del | ||
| ENST00000406757.2:c.603_762del | ||
| ENST00000631057.2:c.1252_1411del | ||
| NM_001164617.1:c.1483_1642del | ||
| NM_001164618.1:c.1366_1525del | ||
| NM_001164619.1:c.1252_1411del | ||
| NM_004484.3:c.1414_1573del , LRG_505t1:c.1414_1573del | ||
| NM_001164617.2:c.1483_1642del | ||
| NM_001164618.2:c.1366_1525del | ||
| NM_001164619.2:c.1252_1411del | ||
| NM_004484.4:c.1414_1573del |