Linked Data
dbSNP Id:
rs1565509389
gnomAD v2:
12-8757827-GGCTATTTGCAC-G
gnomAD v4:
12-8605231-GGCTATTTGCAC-G
MyVariant Identifiers:
chr12:g.8757828_8757838del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8605232_8605242del , CM000674.2:g.8605232_8605242del | GRCh38 |
| NC_000012.11:g.8757828_8757838del , CM000674.1:g.8757828_8757838del | GRCh37 |
| NC_000012.10:g.8649095_8649105del | NCBI36 |
| NG_011588.1:g.12605_12615del , LRG_17:g.12605_12615del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537228.6:c.400_410del | ENSP00000445691.1:p.Val134HisfsTer20 | |
| ENST00000543081.6:c.400_410del | ENSP00000439103.2:p.Val134HisfsTer? | |
| ENST00000544516.6:c.157-905_157-895del | ENSP00000439538.2:n.157-905_157-895del | |
| ENST00000545576.2:n.509_519del | ||
| ENST00000696246.1:c.385_395del | ENSP00000512504.1:p.Val129HisfsTer20 | |
| ENST00000696271.1:n.520_530del | ||
| ENST00000696272.1:c.385_395del | ENSP00000512515.1:p.Val129HisfsTer30 | |
| ENST00000696273.1:c.433_443del | ENSP00000512516.1:p.Val145HisfsTer30 | |
| ENST00000229335.11:c.400_410del MANE Select | ENSP00000229335.6:p.Val134HisfsTer30 | |
| ENST00000229335.10:c.400_410del | ENSP00000229335.6:p.Val134HisfsTer30 | |
| ENST00000537228.5:c.400_410del | ENSP00000445691.1:p.Val134HisfsTer20 | |
| ENST00000543081.5:c.396_406del | ||
| ENST00000544516.5:c.153-905_153-895del | ||
| ENST00000545512.1:c.396_406del | ||
| ENST00000545576.1:n.434_444del | ||
| NM_020661.2:c.400_410del , LRG_17t1:c.400_410del | NP_065712.1:p.Val134HisfsTer30 | |
| XM_011520772.1:c.400_410del | XP_011519074.1:p.Val134HisfsTer20 | |
| XM_011520773.1:c.400_410del | XP_011519075.1:p.Val134HisfsTer? | |
| NM_001330343.1:c.400_410del | NP_001317272.1:p.Val134HisfsTer20 | |
| NM_020661.3:c.400_410del | NP_065712.1:p.Val134HisfsTer30 | |
| XM_011520773.2:c.400_410del | XP_011519075.1:p.Val134HisfsTer? | |
| NM_020661.4:c.400_410del MANE Select | NP_065712.1:p.Val134HisfsTer30 | |
| NM_001330343.2:c.400_410del | NP_001317272.1:p.Val134HisfsTer20 |