Linked Data
ClinVar Variation Id:
1700681
ClinVar RCV Id:
RCV002285559
gnomAD v4:
7-44149859-CCTGCCAAGAAGCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44149861_44149873del , CM000669.2:g.44149861_44149873del | GRCh38 |
| NC_000007.13:g.44189460_44189472del , CM000669.1:g.44189460_44189472del | GRCh37 |
| NC_000007.12:g.44155985_44155997del | NCBI36 |
| NG_008847.1:g.44552_44564del | |
| NG_008847.2:g.53299_53311del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*578-13_*578-1del | ENSP00000379142.4:n.*578-13_*578-1del | |
| ENST00000616242.5:c.580-13_580-1del | ENSP00000482149.2:n.580-13_580-1del | |
| ENST00000682635.1:n.1066-13_1066-1del | ||
| ENST00000345378.7:c.583-13_583-1del | ENSP00000223366.2:n.583-13_583-1del | |
| ENST00000403799.8:c.580-13_580-1del MANE Select | ENSP00000384247.3:n.580-13_580-1del | |
| ENST00000671824.1:c.580-13_580-1del | ENSP00000500264.1:n.580-13_580-1del | |
| ENST00000673284.1:c.580-13_580-1del | ENSP00000499852.1:n.580-13_580-1del | |
| ENST00000345378.6:c.583-13_583-1del | ENSP00000223366.2:n.583-13_583-1del | |
| ENST00000395796.7:c.577-13_577-1del | ENSP00000379142.3:n.577-13_577-1del | |
| ENST00000403799.7:c.580-13_580-1del | ENSP00000384247.3:n.580-13_580-1del | |
| ENST00000437084.1:c.529-13_529-1del | ENSP00000402840.1:n.529-13_529-1del | |
| ENST00000616242.4:c.577-13_577-1del | ENSP00000482149.1:n.577-13_577-1del | |
| NM_000162.3:c.580-13_580-1del | NP_000153.1:n.580-13_580-1del | |
| NM_033507.1:c.583-13_583-1del | NP_277042.1:n.583-13_583-1del | |
| NM_033508.1:c.577-13_577-1del | NP_277043.1:n.577-13_577-1del | |
| NM_000162.4:c.580-13_580-1del | NP_000153.1:n.580-13_580-1del | |
| NM_001354800.1:c.580-13_580-1del | NP_001341729.1:n.580-13_580-1del | |
| NM_033507.2:c.583-13_583-1del | NP_277042.1:n.583-13_583-1del | |
| NM_033508.2:c.577-13_577-1del | NP_277043.1:n.577-13_577-1del | |
| NM_000162.5:c.580-13_580-1del MANE Select | NP_000153.1:n.580-13_580-1del | |
| NM_033507.3:c.583-13_583-1del | NP_277042.1:n.583-13_583-1del | |
| NM_033508.3:c.577-13_577-1del | NP_277043.1:n.577-13_577-1del |