Linked Data
dbSNP Id:
rs137852732
MyVariant Identifiers:
chr19:g.33793002_33793003dupCA (hg19)
chr19:g.33793001_33793002insCA (hg19)
chr19:g.33302096_33302097dupCA (hg38)
chr19:g.33302095_33302096insCA (hg38)
PubMed:
PMID:20963938
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302096_33302097dup , CM000681.2:g.33302096_33302097dup | GRCh38 |
| NC_000019.9:g.33793002_33793003dup , CM000681.1:g.33793002_33793003dup | GRCh37 |
| NC_000019.8:g.38484842_38484843dup | NCBI36 |
| NG_012022.1:g.5428_5429dup , LRG_456:g.5428_5429dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000498907.3:c.318_319dup MANE Select | ENSP00000427514.1:p.Asp107ValfsTer? | |
| ENST00000498907.2:c.318_319dup | ENSP00000427514.1:p.Asp107ValfsTer? | |
| NM_001285829.1:c.-40_-39dup | NP_001272758.1:n.-40_-39dup | |
| NM_001287424.1:c.423_424dup | NP_001274353.1:p.Asp142ValfsTer? | |
| NM_001287435.1:c.276_277dup | NP_001274364.1:p.Asp93ValfsTer? | |
| NM_004364.4:c.318_319dup | NP_004355.2:p.Asp107ValfsTer? | |
| NM_001287424.2:c.423_424dup | NP_001274353.1:p.Asp142ValfsTer? | |
| NM_004364.5:c.318_319dup MANE Select | NP_004355.2:p.Asp107ValfsTer? | |
| NM_001285829.2:c.-40_-39dup | NP_001272758.1:n.-40_-39dup | |
| NM_001287435.2:c.276_277dup | NP_001274364.1:p.Asp93ValfsTer? |