ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148152466_148152469del , CM000666.2:g.148152466_148152469del | GRCh38 |
| NC_000004.11:g.149073617_149073620del , CM000666.1:g.149073617_149073620del | GRCh37 |
| NC_000004.10:g.149293067_149293070del | NCBI36 |
| NG_013350.1:g.295057_295060del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358102.8:c.2510+4_2510+7del | ||
| ENST00000342437.8:c.2015-32177_2015-32174del | ENSP00000343907.4:n.2015-32177_2015-32174del | |
| ENST00000344721.8:c.2510+4_2510+7del | ||
| ENST00000358102.7:c.2510+4_2510+7del | ||
| ENST00000503174.1:n.443_446del | ||
| ENST00000503313.1:n.707+4_707+7del | ||
| ENST00000511528.1:c.2522+4_2522+7del | ||
| ENST00000512865.5:c.2159+4_2159+7del | ||
| ENST00000625323.2:c.2522+4_2522+7del | ||
| NM_000901.4:c.2510+4_2510+7del | ||
| NM_001166104.1:c.2159+4_2159+7del | ||
| XM_011531975.1:c.2522+4_2522+7del | ||
| XM_011531976.1:c.2522+4_2522+7del | ||
| XM_011531977.1:c.2522+4_2522+7del | ||
| XM_011531978.1:c.2522+4_2522+7del | ||
| NM_001354819.1:c.2159+4_2159+7del | ||
| NR_148974.1:n.2378-32177_2378-32174del | ||
| XM_011531978.2:c.2522+4_2522+7del | ||
| NM_000901.5:c.2510+4_2510+7del | ||
| NM_001166104.2:c.2159+4_2159+7del | ||
| NR_148974.2:n.2272-32177_2272-32174del |