Linked Data
ClinVar Variation Id:
558543
ClinVar RCV Id:
RCV000674832
dbSNP Id:
rs1555342007
MyVariant Identifiers:
chr13:g.20189532_20189533del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189533_20189534del , CM000675.2:g.20189533_20189534del | GRCh38 |
| NC_000013.10:g.20763672_20763673del , CM000675.1:g.20763672_20763673del | GRCh37 |
| NC_000013.9:g.19661672_19661673del | NCBI36 |
| NG_008358.1:g.8443_8444del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382844.2:c.49_50del | ENSP00000372295.1:p.Ser17HisfsTer30 | |
| ENST00000382848.5:c.49_50del MANE Select | ENSP00000372299.4:p.Ser17HisfsTer30 | |
| ENST00000382844.1:c.49_50del | ENSP00000372295.1:p.Ser17HisfsTer30 | |
| ENST00000382848.4:c.49_50del | ENSP00000372299.4:p.Ser17HisfsTer30 | |
| NM_004004.5:c.49_50del | NP_003995.2:p.Ser17HisfsTer30 | |
| XM_011535049.1:c.49_50del | XP_011533351.1:p.Ser17HisfsTer30 | |
| XM_011535049.2:c.49_50del | XP_011533351.1:p.Ser17HisfsTer30 | |
| NM_004004.6:c.49_50del MANE Select | NP_003995.2:p.Ser17HisfsTer30 |