Canonical Allele Identifier: CA2392190387

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45503996_45504000delinsGTCTC , CM000683.2:g.45503996_45504000delinsGTCTC	GRCh38
NC_000021.8:g.46923910_46923914delinsGTCTC , CM000683.1:g.46923910_46923914delinsGTCTC	GRCh37
NC_000021.7:g.45748338_45748342delinsGTCTC	NCBI36
NG_011903.1:g.103814_103818delinsGTCTC
NG_028278.2:g.64144_64148delinsGAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3224-15_3224-11delinsGTCTC (COL18A1)	ENSP00000347665.5:n.3224-15_3224-11delinsGTCTC
ENST00000651438.1:c.2684-15_2684-11delinsGTCTC (COL18A1) MANE Select	ENSP00000498485.1:n.2684-15_2684-11delinsGTCTC
ENST00000342220.9:c.725-15_725-11delinsGTCTC (COL18A1)	ENSP00000339118.5:n.725-15_725-11delinsGTCTC
ENST00000355480.9:c.3224-15_3224-11delinsGTCTC (COL18A1)	ENSP00000347665.5:n.3224-15_3224-11delinsGTCTC
ENST00000359759.8:c.3929-15_3929-11delinsGTCTC (COL18A1)	ENSP00000352798.4:n.3929-15_3929-11delinsGTCTC
ENST00000400337.6:c.2684-15_2684-11delinsGTCTC (COL18A1)	ENSP00000383191.2:n.2684-15_2684-11delinsGTCTC
ENST00000417954.5:c.498-5388_498-5384delinsGAGAC (SLC19A1)
ENST00000461785.1:n.122_126delinsGAGAC (SLC19A1)
ENST00000567670.5:c.1294-5388_1294-5384delinsGAGAC (SLC19A1)	ENSP00000457278.1:n.1294-5388_1294-5384delinsGAGAC
NM_030582.3:c.3224-15_3224-11delinsGTCTC (COL18A1)	NP_085059.2:n.3224-15_3224-11delinsGTCTC
NM_130444.2:c.3929-15_3929-11delinsGTCTC (COL18A1)	NP_569711.2:n.3929-15_3929-11delinsGTCTC
NM_130445.3:c.2684-15_2684-11delinsGTCTC (COL18A1)	NP_569712.2:n.2684-15_2684-11delinsGTCTC
XM_011529707.1:c.1585-1031_1585-1027delinsGAGAC (SLC19A1)	XP_011528009.1:n.1585-1031_1585-1027delinsGAGAC
XM_017028445.2:c.1585-1031_1585-1027delinsGAGAC (SLC19A1)	XP_016883934.1:n.1585-1031_1585-1027delinsGAGAC
NM_030582.4:c.3224-15_3224-11delinsGTCTC (COL18A1)	NP_085059.2:n.3224-15_3224-11delinsGTCTC
NM_130444.3:c.3929-15_3929-11delinsGTCTC (COL18A1)	NP_569711.2:n.3929-15_3929-11delinsGTCTC
NM_130445.4:c.2684-15_2684-11delinsGTCTC (COL18A1)	NP_569712.2:n.2684-15_2684-11delinsGTCTC
NM_001379500.1:c.2684-15_2684-11delinsGTCTC (COL18A1) MANE Select	NP_001366429.1:n.2684-15_2684-11delinsGTCTC