Linked Data
dbSNP Id:
rs754870289
gnomAD v2:
21-46924426-GGCCCCCCA-G
gnomAD v3:
21-45504512-GGCCCCCCA-G
gnomAD v4:
21-45504512-GGCCCCCCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45504514_45504521del , CM000683.2:g.45504514_45504521del | GRCh38 |
| NC_000021.8:g.46924428_46924435del , CM000683.1:g.46924428_46924435del | GRCh37 |
| NC_000021.7:g.45748856_45748863del | NCBI36 |
| NG_028278.2:g.63624_63631del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355480.10:c.3366_3373del (COL18A1) | ENSP00000347665.5:p.Gly1125ArgfsTer? | |
| ENST00000651438.1:c.2826_2833del (COL18A1) MANE Select | ENSP00000498485.1:p.Gly945ArgfsTer? | |
| ENST00000342220.9:c.867_874del (COL18A1) | ENSP00000339118.5:p.Gly292ArgfsTer? | |
| ENST00000355480.9:c.3366_3373del (COL18A1) | ENSP00000347665.5:p.Gly1125ArgfsTer? | |
| ENST00000359759.8:c.4071_4078del (COL18A1) | ENSP00000352798.4:p.Gly1360ArgfsTer? | |
| ENST00000400337.6:c.2826_2833del (COL18A1) | ENSP00000383191.2:p.Gly945ArgfsTer? | |
| ENST00000417954.5:c.498-5908_498-5901del (SLC19A1) | ||
| ENST00000567670.5:c.1294-5908_1294-5901del (SLC19A1) | ENSP00000457278.1:n.1294-5908_1294-5901de... | |
| NM_030582.3:c.3366_3373del (COL18A1) | NP_085059.2:p.Pro1124ThrfsTer? | |
| NM_130444.2:c.4071_4078del (COL18A1) | NP_569711.2:p.Pro1359ThrfsTer? | |
| NM_130445.3:c.2826_2833del (COL18A1) | NP_569712.2:p.Pro944ThrfsTer? | |
| XM_011529707.1:c.1585-1551_1585-1544del (SLC19A1) | XP_011528009.1:n.1585-1551_1585-1544del | |
| XM_017028445.2:c.1585-1551_1585-1544del (SLC19A1) | XP_016883934.1:n.1585-1551_1585-1544del | |
| NM_030582.4:c.3366_3373del (COL18A1) | NP_085059.2:p.Pro1124ThrfsTer? | |
| NM_130444.3:c.4071_4078del (COL18A1) | NP_569711.2:p.Pro1359ThrfsTer? | |
| NM_130445.4:c.2826_2833del (COL18A1) | NP_569712.2:p.Pro944ThrfsTer? | |
| NM_001379500.1:c.2826_2833del (COL18A1) MANE Select | NP_001366429.1:p.Gly945ArgfsTer? |