Linked Data
dbSNP Id:
rs2037065021
gnomAD v3:
21-45504512-GGCCCCCCAGGCCCCCCA-G
gnomAD v4:
21-45504512-GGCCCCCCAGGCCCCCCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45504514_45504530del , CM000683.2:g.45504514_45504530del | GRCh38 |
| NC_000021.8:g.46924428_46924444del , CM000683.1:g.46924428_46924444del | GRCh37 |
| NC_000021.7:g.45748856_45748872del | NCBI36 |
| NG_028278.2:g.63615_63631del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355480.10:c.3366_3382del (COL18A1) | ENSP00000347665.5:p.Pro1124ThrfsTer? | |
| ENST00000651438.1:c.2826_2842del (COL18A1) MANE Select | ENSP00000498485.1:p.Pro944ThrfsTer? | |
| ENST00000342220.9:c.867_883del (COL18A1) | ENSP00000339118.5:p.Pro291ThrfsTer? | |
| ENST00000355480.9:c.3366_3382del (COL18A1) | ENSP00000347665.5:p.Pro1124ThrfsTer? | |
| ENST00000359759.8:c.4071_4087del (COL18A1) | ENSP00000352798.4:p.Pro1359ThrfsTer? | |
| ENST00000400337.6:c.2826_2842del (COL18A1) | ENSP00000383191.2:p.Pro944ThrfsTer? | |
| ENST00000417954.5:c.498-5917_498-5901del (SLC19A1) | ||
| ENST00000567670.5:c.1294-5917_1294-5901del (SLC19A1) | ENSP00000457278.1:n.1294-5917_1294-5901de... | |
| XM_011529707.1:c.1585-1560_1585-1544del (SLC19A1) | XP_011528009.1:n.1585-1560_1585-1544del | |
| XM_017028445.2:c.1585-1560_1585-1544del (SLC19A1) | XP_016883934.1:n.1585-1560_1585-1544del | |
| NM_001379500.1:c.2826_2842del (COL18A1) MANE Select | NP_001366429.1:p.Pro944ThrfsTer? |