Linked Data
ClinVar Variation Id:
1667896
ClinVar RCV Id:
RCV002195863
dbSNP Id:
rs781660752
gnomAD v2:
21-46925152-C-CCCCCCAGGG
gnomAD v3:
21-45505238-C-CCCCCCAGGG
gnomAD v4:
21-45505238-C-CCCCCCAGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45505244_45505252dup , CM000683.2:g.45505244_45505252dup | GRCh38 |
| NC_000021.8:g.46925158_46925166dup , CM000683.1:g.46925158_46925166dup | GRCh37 |
| NC_000021.7:g.45749586_45749594dup | NCBI36 |
| NG_011903.1:g.105053_105061dup | |
| NG_028278.2:g.62897_62905dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.3519_3527dup (COL18A1) | ENSP00000347665.5:p.Pro1176_Ser1177insGlyProPro | |
| ENST00000651438.1:c.2979_2987dup (COL18A1) MANE Select | ENSP00000498485.1:p.Pro996_Ser997insGlyProPro | |
| ENST00000342220.9:c.1020_1028dup (COL18A1) | ENSP00000339118.5:p.Pro343_Ser344insGlyProPro | |
| ENST00000355480.9:c.3519_3527dup (COL18A1) | ENSP00000347665.5:p.Pro1176_Ser1177insGlyProPro | |
| ENST00000359759.8:c.4224_4232dup (COL18A1) | ENSP00000352798.4:p.Pro1411_Ser1412insGlyProPro | |
| ENST00000400337.6:c.2979_2987dup (COL18A1) | ENSP00000383191.2:p.Pro996_Ser997insGlyProPro | |
| ENST00000417954.5:c.498-6635_498-6627dup (SLC19A1) | ||
| ENST00000567670.5:c.1294-6635_1294-6627dup (SLC19A1) | ENSP00000457278.1:n.1294-6635_1294-6627dup | |
| NM_030582.3:c.3510_3518dup (COL18A1) | NP_085059.2:p.Pro1173_Ser1174insGlyProPro | |
| NM_130444.2:c.4215_4223dup (COL18A1) | NP_569711.2:p.Pro1408_Ser1409insGlyProPro | |
| NM_130445.3:c.2970_2978dup (COL18A1) | NP_569712.2:p.Pro993_Ser994insGlyProPro | |
| XM_011529707.1:c.1585-2278_1585-2270dup (SLC19A1) | XP_011528009.1:n.1585-2278_1585-2270dup | |
| XM_017028445.2:c.1585-2278_1585-2270dup (SLC19A1) | XP_016883934.1:n.1585-2278_1585-2270dup | |
| NM_030582.4:c.3510_3518dup (COL18A1) | NP_085059.2:p.Pro1173_Ser1174insGlyProPro | |
| NM_130444.3:c.4215_4223dup (COL18A1) | NP_569711.2:p.Pro1408_Ser1409insGlyProPro | |
| NM_130445.4:c.2970_2978dup (COL18A1) | NP_569712.2:p.Pro993_Ser994insGlyProPro | |
| NM_001379500.1:c.2979_2987dup (COL18A1) MANE Select | NP_001366429.1:p.Pro996_Ser997insGlyProPro |