Linked Data
ClinVar Variation Id:
1452039
ClinVar RCV Id:
RCV001994470
dbSNP Id:
rs762939986
gnomAD v2:
21-46924419-CCCCCCCGGCCCCCCAGG-C
gnomAD v3:
21-45504505-CCCCCCCGGCCCCCCAGG-C
gnomAD v4:
21-45504505-CCCCCCCGGCCCCCCAGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45504512_45504528del , CM000683.2:g.45504512_45504528del | GRCh38 |
| NC_000021.8:g.46924426_46924442del , CM000683.1:g.46924426_46924442del | GRCh37 |
| NC_000021.7:g.45748854_45748870del | NCBI36 |
| NG_028278.2:g.63622_63638del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355480.10:c.3364_3380del (COL18A1) | ENSP00000347665.5:p.Gly1122ArgfsTer? | |
| ENST00000651438.1:c.2824_2840del (COL18A1) MANE Select | ENSP00000498485.1:p.Gly942ArgfsTer? | |
| ENST00000342220.9:c.865_881del (COL18A1) | ENSP00000339118.5:p.Gly289ArgfsTer? | |
| ENST00000355480.9:c.3364_3380del (COL18A1) | ENSP00000347665.5:p.Gly1122ArgfsTer? | |
| ENST00000359759.8:c.4069_4085del (COL18A1) | ENSP00000352798.4:p.Gly1357ArgfsTer? | |
| ENST00000400337.6:c.2824_2840del (COL18A1) | ENSP00000383191.2:p.Gly942ArgfsTer? | |
| ENST00000417954.5:c.498-5910_498-5894del (SLC19A1) | ||
| ENST00000567670.5:c.1294-5910_1294-5894del (SLC19A1) | ENSP00000457278.1:n.1294-5910_1294-5894de... | |
| XM_011529707.1:c.1585-1553_1585-1537del (SLC19A1) | XP_011528009.1:n.1585-1553_1585-1537del | |
| XM_017028445.2:c.1585-1553_1585-1537del (SLC19A1) | XP_016883934.1:n.1585-1553_1585-1537del | |
| NM_001379500.1:c.2824_2840del (COL18A1) MANE Select | NP_001366429.1:p.Gly942ArgfsTer? |