Linked Data
ClinVar Variation Id:
2037430
ClinVar RCV Id:
RCV002882207
dbSNP Id:
rs1232522044
gnomAD v2:
21-46923907-CCTGT-C
gnomAD v3:
21-45503993-CCTGT-C
gnomAD v4:
21-45503993-CCTGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45503996_45503999del , CM000683.2:g.45503996_45503999del | GRCh38 |
| NC_000021.8:g.46923910_46923913del , CM000683.1:g.46923910_46923913del | GRCh37 |
| NC_000021.7:g.45748338_45748341del | NCBI36 |
| NG_011903.1:g.103814_103817del | |
| NG_028278.2:g.64147_64150del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.3224-15_3224-12del (COL18A1) | ENSP00000347665.5:n.3224-15_3224-12del | |
| ENST00000651438.1:c.2684-15_2684-12del (COL18A1) MANE Select | ENSP00000498485.1:n.2684-15_2684-12del | |
| ENST00000342220.9:c.725-15_725-12del (COL18A1) | ENSP00000339118.5:n.725-15_725-12del | |
| ENST00000355480.9:c.3224-15_3224-12del (COL18A1) | ENSP00000347665.5:n.3224-15_3224-12del | |
| ENST00000359759.8:c.3929-15_3929-12del (COL18A1) | ENSP00000352798.4:n.3929-15_3929-12del | |
| ENST00000400337.6:c.2684-15_2684-12del (COL18A1) | ENSP00000383191.2:n.2684-15_2684-12del | |
| ENST00000417954.5:c.498-5385_498-5382del (SLC19A1) | ||
| ENST00000461785.1:n.125_128del (SLC19A1) | ||
| ENST00000567670.5:c.1294-5385_1294-5382del (SLC19A1) | ENSP00000457278.1:n.1294-5385_1294-5382del | |
| NM_030582.3:c.3224-15_3224-12del (COL18A1) | NP_085059.2:n.3224-15_3224-12del | |
| NM_130444.2:c.3929-15_3929-12del (COL18A1) | NP_569711.2:n.3929-15_3929-12del | |
| NM_130445.3:c.2684-15_2684-12del (COL18A1) | NP_569712.2:n.2684-15_2684-12del | |
| XM_011529707.1:c.1585-1028_1585-1025del (SLC19A1) | XP_011528009.1:n.1585-1028_1585-1025del | |
| XM_017028445.2:c.1585-1028_1585-1025del (SLC19A1) | XP_016883934.1:n.1585-1028_1585-1025del | |
| NM_030582.4:c.3224-15_3224-12del (COL18A1) | NP_085059.2:n.3224-15_3224-12del | |
| NM_130444.3:c.3929-15_3929-12del (COL18A1) | NP_569711.2:n.3929-15_3929-12del | |
| NM_130445.4:c.2684-15_2684-12del (COL18A1) | NP_569712.2:n.2684-15_2684-12del | |
| NM_001379500.1:c.2684-15_2684-12del (COL18A1) MANE Select | NP_001366429.1:n.2684-15_2684-12del |