Linked Data
ClinVar Variation Id:
1346176
ClinVar RCV Id:
RCV002029872
dbSNP Id:
rs1252621647
gnomAD v2:
21-46825311-CGCG-C
gnomAD v4:
21-45405396-CGCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45405406_45405408del , CM000683.2:g.45405406_45405408del | GRCh38 |
| NC_000021.8:g.46825321_46825323del , CM000683.1:g.46825321_46825323del | GRCh37 |
| NC_000021.7:g.45649749_45649751del | NCBI36 |
| NG_011903.1:g.5225_5227del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651438.1:c.39_41del (COL18A1) MANE Select | ENSP00000498485.1:p.Arg14del | |
| ENST00000400337.6:c.39_41del (COL18A1) | ENSP00000383191.2:p.Arg14del | |
| NM_130445.3:c.39_41del (COL18A1) | NP_569712.2:p.Arg14del | |
| XR_244333.2:n.44_46del (BNAT1) | ||
| NM_130445.4:c.39_41del (COL18A1) | NP_569712.2:p.Arg14del | |
| NM_001379500.1:c.39_41del (COL18A1) MANE Select | NP_001366429.1:p.Arg14del |