Linked Data
ClinVar Variation Id:
556293
ClinVar RCV Id:
RCV000672286
dbSNP Id:
rs1555341937
gnomAD v4:
13-20189278-TCTC-T
MyVariant Identifiers:
chr13:g.20189279_20189281del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189279_20189281del , CM000675.2:g.20189279_20189281del | GRCh38 |
| NC_000013.10:g.20763418_20763420del , CM000675.1:g.20763418_20763420del | GRCh37 |
| NC_000013.9:g.19661418_19661420del | NCBI36 |
| NG_008358.1:g.8695_8697del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.301_303del | ENSP00000372295.1:p.Glu101del | |
| ENST00000382848.5:c.301_303del MANE Select | ENSP00000372299.4:p.Glu101del | |
| ENST00000382844.1:c.301_303del | ENSP00000372295.1:p.Glu101del | |
| ENST00000382848.4:c.301_303del | ENSP00000372299.4:p.Glu101del | |
| NM_004004.5:c.301_303del | NP_003995.2:p.Glu101del | |
| XM_011535049.1:c.301_303del | XP_011533351.1:p.Glu101del | |
| XM_011535049.2:c.301_303del | XP_011533351.1:p.Glu101del | |
| NM_004004.6:c.301_303del MANE Select | NP_003995.2:p.Glu101del |