Linked Data
dbSNP Id:
rs2146074786
gnomAD v2:
21-46924424-CCGGCCCCCCAGGCCCCCCA-C
gnomAD v4:
21-45504510-CCGGCCCCCCAGGCCCCCCA-C
MyVariant Identifiers:
chr21:g.46924425_46924443del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45504511_45504529del , CM000683.2:g.45504511_45504529del | GRCh38 |
| NC_000021.8:g.46924425_46924443del , CM000683.1:g.46924425_46924443del | GRCh37 |
| NC_000021.7:g.45748853_45748871del | NCBI36 |
| NG_028278.2:g.63615_63633del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355480.10:c.3363_3381del (COL18A1) | ENSP00000347665.5:p.Gly1122AlafsTer? | |
| ENST00000651438.1:c.2823_2841del (COL18A1) MANE Select | ENSP00000498485.1:p.Gly942AlafsTer? | |
| ENST00000342220.9:c.864_882del (COL18A1) | ENSP00000339118.5:p.Gly289AlafsTer? | |
| ENST00000355480.9:c.3363_3381del (COL18A1) | ENSP00000347665.5:p.Gly1122AlafsTer? | |
| ENST00000359759.8:c.4068_4086del (COL18A1) | ENSP00000352798.4:p.Gly1357AlafsTer? | |
| ENST00000400337.6:c.2823_2841del (COL18A1) | ENSP00000383191.2:p.Gly942AlafsTer? | |
| ENST00000417954.5:c.498-5917_498-5899del (SLC19A1) | ||
| ENST00000567670.5:c.1294-5917_1294-5899del (SLC19A1) | ENSP00000457278.1:n.1294-5917_1294-5899de... | |
| XM_011529707.1:c.1585-1560_1585-1542del (SLC19A1) | XP_011528009.1:n.1585-1560_1585-1542del | |
| XM_017028445.2:c.1585-1560_1585-1542del (SLC19A1) | XP_016883934.1:n.1585-1560_1585-1542del | |
| NM_001379500.1:c.2823_2841del (COL18A1) MANE Select | NP_001366429.1:p.Gly942AlafsTer? |