Canonical Allele Identifier: CA144775
Gene: COL18A1 HGNC NCBI
SLC19A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65410
dbSNP Id: rs398122391

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 ENSP00000347665.5:p.Leu1355ValfsTer?
ENST00000651438.1:c.3523_3524del (COL18A1) MANE Select ENSP00000498485.1:p.Leu1175ValfsTer?
ENST00000342220.9:n.1567_1568del ENSP00000339118.5:p.Leu523ValfsTer?
ENST00000355480.9:c.4063_4064del ENSP00000347665.5:p.Leu1355ValfsTer?
ENST00000359759.8:n.4768_4769del ENSP00000352798.4:p.Leu1590ValfsTer?
ENST00000400337.6:c.3523_3524del ENSP00000383191.2:p.Leu1175ValfsTer?
ENST00000417954.5:n.498-11480_498-11479del
ENST00000423214.1:n.477_478del
ENST00000473212.1:n.1849_1850del
ENST00000567670.5:c.1294-11480_1294-11479del ENSP00000457278.1:p.=
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:p.=
XM_017028445.2:c.1585-7123_1585-7122del (SLC19A1) XP_016883934.1:p.=
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?