Canonical Allele Identifier: CA2392194869

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45509982_45510002delinsGCGGGGCCGGGGTGGTGCGCC , CM000683.2:g.45509982_45510002delinsGCGGGGCCGGGGTGGTGCGCC	GRCh38
NC_000021.8:g.46929896_46929916delinsGCGGGGCCGGGGTGGTGCGCC , CM000683.1:g.46929896_46929916delinsGCGGGGCCGGGGTGGTGCGCC	GRCh37
NC_000021.7:g.45754324_45754344delinsGCGGGGCCGGGGTGGTGCGCC	NCBI36
NG_011903.1:g.109791_109811delinsGCGGGGCCGGGGTGGTGCGCC
NG_028278.2:g.58142_58162delinsGGCGCACCACCCCGGCCCCGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.4036-82_4036-62delinsGCGGGGCCGGGGTGGTGCGCC (COL18A1)	ENSP00000347665.5:n.4036-82_4036-62delins...
ENST00000651438.1:c.3496-82_3496-62delinsGCGGGGCCGGGGTGGTGCGCC (COL18A1) MANE Select	ENSP00000498485.1:n.3496-82_3496-62delins...
ENST00000342220.9:c.1540-82_1540-62delinsGCGGGGCCGGGGTGGTGCGCC (COL18A1)	ENSP00000339118.5:n.1540-82_1540-62delins...
ENST00000355480.9:c.4036-82_4036-62delinsGCGGGGCCGGGGTGGTGCGCC (COL18A1)	ENSP00000347665.5:n.4036-82_4036-62delins...
ENST00000359759.8:c.4741-82_4741-62delinsGCGGGGCCGGGGTGGTGCGCC (COL18A1)	ENSP00000352798.4:n.4741-82_4741-62delins...
ENST00000400337.6:c.3496-82_3496-62delinsGCGGGGCCGGGGTGGTGCGCC (COL18A1)	ENSP00000383191.2:n.3496-82_3496-62delins...
ENST00000417954.5:c.498-11390_498-11370delinsGGCGCACCACCCCGGCCCCGC (SLC19A1)
ENST00000423214.1:c.450-82_450-62delinsGCGGGGCCGGGGTGGTGCGCC (COL18A1)
ENST00000473212.1:n.1822-82_1822-62delinsGCGGGGCCGGGGTGGTGCGCC (COL18A1)
ENST00000567670.5:c.1294-11390_1294-11370delinsGGCGCACCACCCCGGCCCCGC (SLC19A1)	ENSP00000457278.1:n.1294-11390_1294-11370...
NM_030582.3:c.4027-82_4027-62delinsGCGGGGCCGGGGTGGTGCGCC (COL18A1)	NP_085059.2:n.4027-82_4027-62delinsGCGGGG...
NM_130444.2:c.4732-82_4732-62delinsGCGGGGCCGGGGTGGTGCGCC (COL18A1)	NP_569711.2:n.4732-82_4732-62delinsGCGGGG...
NM_130445.3:c.3487-82_3487-62delinsGCGGGGCCGGGGTGGTGCGCC (COL18A1)	NP_569712.2:n.3487-82_3487-62delinsGCGGGG...
XM_011529707.1:c.1585-7033_1585-7013delinsGGCGCACCACCCCGGCCCCGC (SLC19A1)	XP_011528009.1:n.1585-7033_1585-7013delin...
XM_017028445.2:c.1585-7033_1585-7013delinsGGCGCACCACCCCGGCCCCGC (SLC19A1)	XP_016883934.1:n.1585-7033_1585-7013delin...
NM_030582.4:c.4027-82_4027-62delinsGCGGGGCCGGGGTGGTGCGCC (COL18A1)	NP_085059.2:n.4027-82_4027-62delinsGCGGGG...
NM_130444.3:c.4732-82_4732-62delinsGCGGGGCCGGGGTGGTGCGCC (COL18A1)	NP_569711.2:n.4732-82_4732-62delinsGCGGGG...
NM_130445.4:c.3487-82_3487-62delinsGCGGGGCCGGGGTGGTGCGCC (COL18A1)	NP_569712.2:n.3487-82_3487-62delinsGCGGGG...
NM_001379500.1:c.3496-82_3496-62delinsGCGGGGCCGGGGTGGTGCGCC (COL18A1) MANE Select	NP_001366429.1:n.3496-82_3496-62delinsGCG...