Canonical Allele Identifier: CA645607891
Gene: COL18A1 HGNC NCBI
SLC19A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45504419del , CM000683.2:g.45504419del GRCh38
NC_000021.8:g.46924333del , CM000683.1:g.46924333del GRCh37
NC_000021.7:g.45748761del NCBI36
NG_011903.1:g.104237del
NG_028278.2:g.63729del

Transcript Alleles

HGVS Amino-acid change
ENST00000355480.10:c.3271del (COL18A1)
ENST00000651438.1:c.2731del (COL18A1)
ENST00000342220.9:c.772del (COL18A1)
ENST00000355480.9:c.3271del (COL18A1)
ENST00000359759.8:c.3976del (COL18A1)
ENST00000400337.6:c.2731del (COL18A1)
ENST00000417954.5:c.498-5803del (SLC19A1)
ENST00000567670.5:c.1294-5803del (SLC19A1) ENSP00000457278.1:n.1294-5803del
NM_030582.3:c.3271del (COL18A1)
NM_130444.2:c.3976del (COL18A1)
NM_130445.3:c.2731del (COL18A1)
XM_011529707.1:c.1585-1446del (SLC19A1) XP_011528009.1:n.1585-1446del
XM_017028445.2:c.1585-1446del (SLC19A1) XP_016883934.1:n.1585-1446del
NM_030582.4:c.3271del (COL18A1)
NM_130444.3:c.3976del (COL18A1)
NM_130445.4:c.2731del (COL18A1)
NM_001379500.1:c.2731del (COL18A1)