Linked Data
ClinVar Variation Id:
284906
dbSNP Id:
rs750188782
gnomAD v2:
13-20763529-GCACACGTTCTTGCAGC-G
gnomAD v4:
13-20189390-GCACACGTTCTTGCAGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189392_20189407del , CM000675.2:g.20189392_20189407del | GRCh38 |
| NC_000013.10:g.20763531_20763546del , CM000675.1:g.20763531_20763546del | GRCh37 |
| NC_000013.9:g.19661531_19661546del | NCBI36 |
| NG_008358.1:g.8570_8585del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.176_191del | ENSP00000372295.1:p.Gly59AlafsTer18 | |
| ENST00000382848.5:c.176_191del MANE Select | ENSP00000372299.4:p.Gly59AlafsTer18 | |
| ENST00000382844.1:c.176_191del | ENSP00000372295.1:p.Gly59AlafsTer18 | |
| ENST00000382848.4:c.176_191del | ENSP00000372299.4:p.Gly59AlafsTer18 | |
| NM_004004.5:c.176_191del | NP_003995.2:p.Gly59AlafsTer18 | |
| XM_011535049.1:c.176_191del | XP_011533351.1:p.Gly59AlafsTer18 | |
| XM_011535049.2:c.176_191del | XP_011533351.1:p.Gly59AlafsTer18 | |
| NM_004004.6:c.176_191del MANE Select | NP_003995.2:p.Gly59AlafsTer18 |