Linked Data
ClinVar Variation Id:
65410
ClinVar RCV Id:
RCV000055632
RCV000479282
RCV000505165
RCV000504900
RCV001074487
RCV001198207
RCV003235024
RCV002504954
dbSNP Id:
rs398122391
ExAC:
21:46930004 CCT / C
gnomAD v2:
21-46930004-CCT-C
gnomAD v3:
21-45510090-CCT-C
gnomAD v4:
21-45510090-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45510091_45510092del , CM000683.2:g.45510091_45510092del | GRCh38 |
| NC_000021.8:g.46930005_46930006del , CM000683.1:g.46930005_46930006del | GRCh37 |
| NC_000021.7:g.45754433_45754434del | NCBI36 |
| NG_011903.1:g.109900_109901del | |
| NG_028278.2:g.58052_58053del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.4063_4064del (COL18A1) | ENSP00000347665.5:p.Leu1355ValfsTer? | |
| ENST00000651438.1:c.3523_3524del (COL18A1) MANE Select | ENSP00000498485.1:p.Leu1175ValfsTer? | |
| ENST00000342220.9:c.1567_1568del (COL18A1) | ENSP00000339118.5:p.Leu523ValfsTer? | |
| ENST00000355480.9:c.4063_4064del (COL18A1) | ENSP00000347665.5:p.Leu1355ValfsTer? | |
| ENST00000359759.8:c.4768_4769del (COL18A1) | ENSP00000352798.4:p.Leu1590ValfsTer? | |
| ENST00000400337.6:c.3523_3524del (COL18A1) | ENSP00000383191.2:p.Leu1175ValfsTer? | |
| ENST00000417954.5:c.498-11480_498-11479del (SLC19A1) | ||
| ENST00000423214.1:c.477_478del (COL18A1) | ||
| ENST00000473212.1:n.1849_1850del (COL18A1) | ||
| ENST00000567670.5:c.1294-11480_1294-11479del (SLC19A1) | ENSP00000457278.1:n.1294-11480_1294-11479del | |
| NM_030582.3:c.4054_4055del (COL18A1) | NP_085059.2:p.Leu1352ValfsTer? | |
| NM_130444.2:c.4759_4760del (COL18A1) | NP_569711.2:p.Leu1587ValfsTer? | |
| NM_130445.3:c.3514_3515del (COL18A1) | NP_569712.2:p.Leu1172ValfsTer? | |
| XM_011529707.1:c.1585-7123_1585-7122del (SLC19A1) | XP_011528009.1:n.1585-7123_1585-7122del | |
| XM_017028445.2:c.1585-7123_1585-7122del (SLC19A1) | XP_016883934.1:n.1585-7123_1585-7122del | |
| NM_030582.4:c.4054_4055del (COL18A1) | NP_085059.2:p.Leu1352ValfsTer? | |
| NM_130444.3:c.4759_4760del (COL18A1) | NP_569711.2:p.Leu1587ValfsTer? | |
| NM_130445.4:c.3514_3515del (COL18A1) | NP_569712.2:p.Leu1172ValfsTer? | |
| NM_001379500.1:c.3523_3524del (COL18A1) MANE Select | NP_001366429.1:p.Leu1175ValfsTer? |