Linked Data
dbSNP Id:
rs1441015525
gnomAD v2:
12-8757119-AG-A
gnomAD v3:
12-8604523-AG-A
gnomAD v4:
12-8604523-AG-A
MyVariant Identifiers:
chr12:g.8757121del (hg19)
chr12:g.8757120del (hg19)
chr12:g.8604525del (hg38)
chr12:g.8604524del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8604525del , CM000674.2:g.8604525del | GRCh38 |
| NC_000012.11:g.8757121del , CM000674.1:g.8757121del | GRCh37 |
| NC_000012.10:g.8648388del | NCBI36 |
| NG_011588.1:g.13323del , LRG_17:g.13323del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537228.6:c.514-187del | ENSP00000445691.1:n.514-187del | |
| ENST00000543081.6:c.428-187del | ENSP00000439103.2:n.428-187del | |
| ENST00000544516.6:c.157-187del | ENSP00000439538.2:n.157-187del | |
| ENST00000545576.2:n.945-187del | ||
| ENST00000696246.1:c.499-187del | ENSP00000512504.1:n.499-187del | |
| ENST00000696271.1:n.956-187del | ||
| ENST00000696272.1:c.529-187del | ENSP00000512515.1:n.529-187del | |
| ENST00000696273.1:c.577-187del | ENSP00000512516.1:n.577-187del | |
| ENST00000229335.11:c.544-187del MANE Select | ENSP00000229335.6:n.544-187del | |
| ENST00000229335.10:c.544-187del | ENSP00000229335.6:n.544-187del | |
| ENST00000537228.5:c.514-187del | ENSP00000445691.1:n.514-187del | |
| ENST00000543081.5:c.424-187del | ||
| ENST00000544516.5:c.153-187del | ||
| ENST00000545512.1:c.540-187del | ||
| ENST00000545576.1:n.870-187del | ||
| NM_020661.2:c.544-187del , LRG_17t1:c.544-187del | NP_065712.1:n.544-187del | |
| XM_011520772.1:c.514-187del | XP_011519074.1:n.514-187del | |
| XM_011520773.1:c.428-187del | XP_011519075.1:n.428-187del | |
| NM_001330343.1:c.514-187del | NP_001317272.1:n.514-187del | |
| NM_020661.3:c.544-187del | NP_065712.1:n.544-187del | |
| XM_011520773.2:c.428-187del | XP_011519075.1:n.428-187del | |
| NM_020661.4:c.544-187del MANE Select | NP_065712.1:n.544-187del | |
| NM_001330343.2:c.514-187del | NP_001317272.1:n.514-187del |