Linked Data
ClinVar Variation Id:
1458345
ClinVar RCV Id:
RCV001956324
dbSNP Id:
rs1195692356
gnomAD v2:
13-20763318-TC-T
gnomAD v4:
13-20189179-TC-T
MyVariant Identifiers:
chr13:g.20763319del (hg19)
chr13:g.20763319delC (hg19)
chr13:g.20189180del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189181del , CM000675.2:g.20189181del | GRCh38 |
| NC_000013.10:g.20763320del , CM000675.1:g.20763320del | GRCh37 |
| NC_000013.9:g.19661320del | NCBI36 |
| NG_008358.1:g.8796del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.402del | ENSP00000372295.1:p.Trp134Ter | |
| ENST00000382848.5:c.402del MANE Select | ENSP00000372299.4:p.Trp134Ter | |
| ENST00000382844.1:c.402del | ENSP00000372295.1:p.Trp134Ter | |
| ENST00000382848.4:c.402del | ENSP00000372299.4:p.Trp134Ter | |
| NM_004004.5:c.402del | NP_003995.2:p.Trp134Ter | |
| XM_011535049.1:c.402del | XP_011533351.1:p.Trp134Ter | |
| XM_011535049.2:c.402del | XP_011533351.1:p.Trp134Ter | |
| NM_004004.6:c.402del MANE Select | NP_003995.2:p.Trp134Ter |