Linked Data
dbSNP Id:
rs1220035148
gnomAD v2:
21-46931722-T-TGGGCA
gnomAD v3:
21-45511808-T-TGGGCA
gnomAD v4:
21-45511808-T-TGGGCA
MyVariant Identifiers:
chr21:g.46931722_46931723insGGGCA (hg19)
chr21:g.45511808_45511809insGGGCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45511813_45511817dup , CM000683.2:g.45511813_45511817dup | GRCh38 |
| NC_000021.8:g.46931727_46931731dup , CM000683.1:g.46931727_46931731dup | GRCh37 |
| NC_000021.7:g.45756155_45756159dup | NCBI36 |
| NG_011903.1:g.111622_111626dup | |
| NG_028278.2:g.56331_56335dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.4350-375_4350-371dup (COL18A1) | ENSP00000347665.5:n.4350-375_4350-371dup | |
| ENST00000651438.1:c.3810-375_3810-371dup (COL18A1) MANE Select | ENSP00000498485.1:n.3810-375_3810-371dup | |
| ENST00000342220.9:c.1854-375_1854-371dup (COL18A1) | ENSP00000339118.5:n.1854-375_1854-371dup | |
| ENST00000355480.9:c.4350-375_4350-371dup (COL18A1) | ENSP00000347665.5:n.4350-375_4350-371dup | |
| ENST00000359759.8:c.5055-375_5055-371dup (COL18A1) | ENSP00000352798.4:n.5055-375_5055-371dup | |
| ENST00000400337.6:c.3810-375_3810-371dup (COL18A1) | ENSP00000383191.2:n.3810-375_3810-371dup | |
| ENST00000417954.5:c.498-13201_498-13197dup (SLC19A1) | ||
| ENST00000423214.1:c.764-375_764-371dup (COL18A1) | ||
| ENST00000473212.1:n.2136-375_2136-371dup (COL18A1) | ||
| ENST00000567670.5:c.1294-13201_1294-13197dup (SLC19A1) | ENSP00000457278.1:n.1294-13201_1294-13197dup | |
| NM_030582.3:c.4341-375_4341-371dup (COL18A1) | NP_085059.2:n.4341-375_4341-371dup | |
| NM_130444.2:c.5046-375_5046-371dup (COL18A1) | NP_569711.2:n.5046-375_5046-371dup | |
| NM_130445.3:c.3801-375_3801-371dup (COL18A1) | NP_569712.2:n.3801-375_3801-371dup | |
| XM_011529707.1:c.1585-8844_1585-8840dup (SLC19A1) | XP_011528009.1:n.1585-8844_1585-8840dup | |
| XM_017028445.2:c.1585-8844_1585-8840dup (SLC19A1) | XP_016883934.1:n.1585-8844_1585-8840dup | |
| NM_030582.4:c.4341-375_4341-371dup (COL18A1) | NP_085059.2:n.4341-375_4341-371dup | |
| NM_130444.3:c.5046-375_5046-371dup (COL18A1) | NP_569711.2:n.5046-375_5046-371dup | |
| NM_130445.4:c.3801-375_3801-371dup (COL18A1) | NP_569712.2:n.3801-375_3801-371dup | |
| NM_001379500.1:c.3810-375_3810-371dup (COL18A1) MANE Select | NP_001366429.1:n.3810-375_3810-371dup |