Linked Data
dbSNP Id:
rs757780135
ExAC:
21:46924433 CAGG / C
gnomAD v2:
21-46924433-CAGG-C
gnomAD v3:
21-45504519-CAGG-C
gnomAD v4:
21-45504519-CAGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45504520_45504522del , CM000683.2:g.45504520_45504522del | GRCh38 |
| NC_000021.8:g.46924434_46924436del , CM000683.1:g.46924434_46924436del | GRCh37 |
| NC_000021.7:g.45748862_45748864del | NCBI36 |
| NG_028278.2:g.63622_63624del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.3372_3374del (COL18A1) | ENSP00000347665.5:p.Gly1125del | |
| ENST00000651438.1:c.2832_2834del (COL18A1) MANE Select | ENSP00000498485.1:p.Gly945del | |
| ENST00000342220.9:c.873_875del (COL18A1) | ENSP00000339118.5:p.Gly292del | |
| ENST00000355480.9:c.3372_3374del (COL18A1) | ENSP00000347665.5:p.Gly1125del | |
| ENST00000359759.8:c.4077_4079del (COL18A1) | ENSP00000352798.4:p.Gly1360del | |
| ENST00000400337.6:c.2832_2834del (COL18A1) | ENSP00000383191.2:p.Gly945del | |
| ENST00000417954.5:c.498-5910_498-5908del (SLC19A1) | ||
| ENST00000567670.5:c.1294-5910_1294-5908del (SLC19A1) | ENSP00000457278.1:n.1294-5910_1294-5908del | |
| NM_030582.3:c.3372_3374del (COL18A1) | NP_085059.2:p.Gly1125del | |
| NM_130444.2:c.4077_4079del (COL18A1) | NP_569711.2:p.Gly1360del | |
| NM_130445.3:c.2832_2834del (COL18A1) | NP_569712.2:p.Gly945del | |
| XM_011529707.1:c.1585-1553_1585-1551del (SLC19A1) | XP_011528009.1:n.1585-1553_1585-1551del | |
| XM_017028445.2:c.1585-1553_1585-1551del (SLC19A1) | XP_016883934.1:n.1585-1553_1585-1551del | |
| NM_030582.4:c.3372_3374del (COL18A1) | NP_085059.2:p.Gly1125del | |
| NM_130444.3:c.4077_4079del (COL18A1) | NP_569711.2:p.Gly1360del | |
| NM_130445.4:c.2832_2834del (COL18A1) | NP_569712.2:p.Gly945del | |
| NM_001379500.1:c.2832_2834del (COL18A1) MANE Select | NP_001366429.1:p.Gly945del |