Linked Data
dbSNP Id:
rs764295559
ExAC:
21:46924420 CCCCCCG / C
gnomAD v2:
21-46924420-CCCCCCG-C
gnomAD v3:
21-45504506-CCCCCCG-C
gnomAD v4:
21-45504506-CCCCCCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45504507_45504512del , CM000683.2:g.45504507_45504512del | GRCh38 |
| NC_000021.8:g.46924421_46924426del , CM000683.1:g.46924421_46924426del | GRCh37 |
| NC_000021.7:g.45748849_45748854del | NCBI36 |
| NG_028278.2:g.63632_63637del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355480.10:c.3359_3364del (COL18A1) | ENSP00000347665.5:p.Pro1120_Gly1122delins... | |
| ENST00000651438.1:c.2819_2824del (COL18A1) MANE Select | ENSP00000498485.1:p.Pro940_Gly942delinsAr... | |
| ENST00000342220.9:c.860_865del (COL18A1) | ENSP00000339118.5:p.Pro287_Gly289delinsAr... | |
| ENST00000355480.9:c.3359_3364del (COL18A1) | ENSP00000347665.5:p.Pro1120_Gly1122delins... | |
| ENST00000359759.8:c.4064_4069del (COL18A1) | ENSP00000352798.4:p.Pro1355_Gly1357delins... | |
| ENST00000400337.6:c.2819_2824del (COL18A1) | ENSP00000383191.2:p.Pro940_Gly942delinsAr... | |
| ENST00000417954.5:c.498-5900_498-5895del (SLC19A1) | ||
| ENST00000567670.5:c.1294-5900_1294-5895del (SLC19A1) | ENSP00000457278.1:n.1294-5900_1294-5895de... | |
| NM_030582.3:c.3359_3364del (COL18A1) | NP_085059.2:p.Pro1120_Gly1122delinsArg | |
| NM_130444.2:c.4064_4069del (COL18A1) | NP_569711.2:p.Pro1355_Gly1357delinsArg | |
| NM_130445.3:c.2819_2824del (COL18A1) | NP_569712.2:p.Pro940_Gly942delinsArg | |
| XM_011529707.1:c.1585-1543_1585-1538del (SLC19A1) | XP_011528009.1:n.1585-1543_1585-1538del | |
| XM_017028445.2:c.1585-1543_1585-1538del (SLC19A1) | XP_016883934.1:n.1585-1543_1585-1538del | |
| NM_030582.4:c.3359_3364del (COL18A1) | NP_085059.2:p.Pro1120_Gly1122delinsArg | |
| NM_130444.3:c.4064_4069del (COL18A1) | NP_569711.2:p.Pro1355_Gly1357delinsArg | |
| NM_130445.4:c.2819_2824del (COL18A1) | NP_569712.2:p.Pro940_Gly942delinsArg | |
| NM_001379500.1:c.2819_2824del (COL18A1) MANE Select | NP_001366429.1:p.Pro940_Gly942delinsArg |