Linked Data
ClinVar Variation Id:
556456
ClinVar RCV Id:
RCV000672467
dbSNP Id:
rs1555341874
MyVariant Identifiers:
chr13:g.20189096_20189137del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189098_20189139del , CM000675.2:g.20189098_20189139del | GRCh38 |
| NC_000013.10:g.20763237_20763278del , CM000675.1:g.20763237_20763278del | GRCh37 |
| NC_000013.9:g.19661237_19661278del | NCBI36 |
| NG_008358.1:g.8839_8880del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.445_486del | ENSP00000372295.1:p.Ala149_Ser162del | |
| ENST00000382848.5:c.445_486del MANE Select | ENSP00000372299.4:p.Ala149_Ser162del | |
| ENST00000382844.1:c.445_486del | ENSP00000372295.1:p.Ala149_Ser162del | |
| ENST00000382848.4:c.445_486del | ENSP00000372299.4:p.Ala149_Ser162del | |
| NM_004004.5:c.445_486del | NP_003995.2:p.Ala149_Ser162del | |
| XM_011535049.1:c.445_486del | XP_011533351.1:p.Ala149_Ser162del | |
| XM_011535049.2:c.445_486del | XP_011533351.1:p.Ala149_Ser162del | |
| NM_004004.6:c.445_486del MANE Select | NP_003995.2:p.Ala149_Ser162del |