Canonical Allele Identifier: CA2392190286

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45503828_45503837delinsGCACCATTAA , CM000683.2:g.45503828_45503837delinsGCACCATTAA	GRCh38
NC_000021.8:g.46923742_46923751delinsGCACCATTAA , CM000683.1:g.46923742_46923751delinsGCACCATTAA	GRCh37
NC_000021.7:g.45748170_45748179delinsGCACCATTAA	NCBI36
NG_011903.1:g.103646_103655delinsGCACCATTAA
NG_028278.2:g.64307_64316delinsTTAATGGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3224-183_3224-174delinsGCACCATTAA (COL18A1)	ENSP00000347665.5:n.3224-183_3224-174delinsGCACCATTAA
ENST00000651438.1:c.2684-183_2684-174delinsGCACCATTAA (COL18A1) MANE Select	ENSP00000498485.1:n.2684-183_2684-174delinsGCACCATTAA
ENST00000342220.9:c.725-183_725-174delinsGCACCATTAA (COL18A1)	ENSP00000339118.5:n.725-183_725-174delinsGCACCATTAA
ENST00000355480.9:c.3224-183_3224-174delinsGCACCATTAA (COL18A1)	ENSP00000347665.5:n.3224-183_3224-174delinsGCACCATTAA
ENST00000359759.8:c.3929-183_3929-174delinsGCACCATTAA (COL18A1)	ENSP00000352798.4:n.3929-183_3929-174delinsGCACCATTAA
ENST00000400337.6:c.2684-183_2684-174delinsGCACCATTAA (COL18A1)	ENSP00000383191.2:n.2684-183_2684-174delinsGCACCATTAA
ENST00000417954.5:c.498-5225_498-5216delinsTTAATGGTGC (SLC19A1)
ENST00000461785.1:n.189+96_189+105delinsTTAATGGTGC (SLC19A1)
ENST00000567670.5:c.1294-5225_1294-5216delinsTTAATGGTGC (SLC19A1)	ENSP00000457278.1:n.1294-5225_1294-5216delinsTTAATGGTGC
NM_030582.3:c.3224-183_3224-174delinsGCACCATTAA (COL18A1)	NP_085059.2:n.3224-183_3224-174delinsGCACCATTAA
NM_130444.2:c.3929-183_3929-174delinsGCACCATTAA (COL18A1)	NP_569711.2:n.3929-183_3929-174delinsGCACCATTAA
NM_130445.3:c.2684-183_2684-174delinsGCACCATTAA (COL18A1)	NP_569712.2:n.2684-183_2684-174delinsGCACCATTAA
XM_011529707.1:c.1585-868_1585-859delinsTTAATGGTGC (SLC19A1)	XP_011528009.1:n.1585-868_1585-859delinsTTAATGGTGC
XM_017028445.2:c.1585-868_1585-859delinsTTAATGGTGC (SLC19A1)	XP_016883934.1:n.1585-868_1585-859delinsTTAATGGTGC
NM_030582.4:c.3224-183_3224-174delinsGCACCATTAA (COL18A1)	NP_085059.2:n.3224-183_3224-174delinsGCACCATTAA
NM_130444.3:c.3929-183_3929-174delinsGCACCATTAA (COL18A1)	NP_569711.2:n.3929-183_3929-174delinsGCACCATTAA
NM_130445.4:c.2684-183_2684-174delinsGCACCATTAA (COL18A1)	NP_569712.2:n.2684-183_2684-174delinsGCACCATTAA
NM_001379500.1:c.2684-183_2684-174delinsGCACCATTAA (COL18A1) MANE Select	NP_001366429.1:n.2684-183_2684-174delinsGCACCATTAA