Linked Data
gnomAD v3:
12-8604496-T-TAAAAAAAAAAAAAAAAAAAAA
gnomAD v4:
12-8604496-T-TAAAAAAAAAAAAAAAAAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8604503_8604523dup , CM000674.2:g.8604503_8604523dup | GRCh38 |
| NC_000012.11:g.8757099_8757119dup , CM000674.1:g.8757099_8757119dup | GRCh37 |
| NC_000012.10:g.8648366_8648386dup | NCBI36 |
| NG_011588.1:g.13330_13350dup , LRG_17:g.13330_13350dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537228.6:c.514-180_514-160dup | ENSP00000445691.1:n.514-180_514-160dup | |
| ENST00000543081.6:c.428-180_428-160dup | ENSP00000439103.2:n.428-180_428-160dup | |
| ENST00000544516.6:c.157-180_157-160dup | ENSP00000439538.2:n.157-180_157-160dup | |
| ENST00000545576.2:n.945-180_945-160dup | ||
| ENST00000696246.1:c.499-180_499-160dup | ENSP00000512504.1:n.499-180_499-160dup | |
| ENST00000696271.1:n.956-180_956-160dup | ||
| ENST00000696272.1:c.529-180_529-160dup | ENSP00000512515.1:n.529-180_529-160dup | |
| ENST00000696273.1:c.577-180_577-160dup | ENSP00000512516.1:n.577-180_577-160dup | |
| ENST00000229335.11:c.544-180_544-160dup MANE Select | ENSP00000229335.6:n.544-180_544-160dup | |
| ENST00000229335.10:c.544-180_544-160dup | ENSP00000229335.6:n.544-180_544-160dup | |
| ENST00000537228.5:c.514-180_514-160dup | ENSP00000445691.1:n.514-180_514-160dup | |
| ENST00000543081.5:c.424-180_424-160dup | ||
| ENST00000544516.5:c.153-180_153-160dup | ||
| ENST00000545512.1:c.540-180_540-160dup | ||
| ENST00000545576.1:n.870-180_870-160dup | ||
| NM_020661.2:c.544-180_544-160dup , LRG_17t1:c.544-180_544-160dup | NP_065712.1:n.544-180_544-160dup | |
| XM_011520772.1:c.514-180_514-160dup | XP_011519074.1:n.514-180_514-160dup | |
| XM_011520773.1:c.428-180_428-160dup | XP_011519075.1:n.428-180_428-160dup | |
| NM_001330343.1:c.514-180_514-160dup | NP_001317272.1:n.514-180_514-160dup | |
| NM_020661.3:c.544-180_544-160dup | NP_065712.1:n.544-180_544-160dup | |
| XM_011520773.2:c.428-180_428-160dup | XP_011519075.1:n.428-180_428-160dup | |
| NM_020661.4:c.544-180_544-160dup MANE Select | NP_065712.1:n.544-180_544-160dup | |
| NM_001330343.2:c.514-180_514-160dup | NP_001317272.1:n.514-180_514-160dup |