Canonical Allele Identifier: CA2392190898

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504703_45504705delinsTGG , CM000683.2:g.45504703_45504705delinsTGG	GRCh38
NC_000021.8:g.46924617_46924619delinsTGG , CM000683.1:g.46924617_46924619delinsTGG	GRCh37
NC_000021.7:g.45749045_45749047delinsTGG	NCBI36
NG_011903.1:g.104512_104514delinsTGG
NG_028278.2:g.63439_63441delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3408+147_3408+149delinsTGG (COL18A1)	ENSP00000347665.5:n.3408+147_3408+149delinsTGG
ENST00000651438.1:c.2868+147_2868+149delinsTGG (COL18A1) MANE Select	ENSP00000498485.1:n.2868+147_2868+149delinsTGG
ENST00000342220.9:c.909+147_909+149delinsTGG (COL18A1)	ENSP00000339118.5:n.909+147_909+149delinsTGG
ENST00000355480.9:c.3408+147_3408+149delinsTGG (COL18A1)	ENSP00000347665.5:n.3408+147_3408+149delinsTGG
ENST00000359759.8:c.4113+147_4113+149delinsTGG (COL18A1)	ENSP00000352798.4:n.4113+147_4113+149delinsTGG
ENST00000400337.6:c.2868+147_2868+149delinsTGG (COL18A1)	ENSP00000383191.2:n.2868+147_2868+149delinsTGG
ENST00000417954.5:c.498-6093_498-6091delinsCCA (SLC19A1)
ENST00000567670.5:c.1294-6093_1294-6091delinsCCA (SLC19A1)	ENSP00000457278.1:n.1294-6093_1294-6091delinsCCA
NM_030582.3:c.3399+147_3399+149delinsTGG (COL18A1)	NP_085059.2:n.3399+147_3399+149delinsTGG
NM_130444.2:c.4104+147_4104+149delinsTGG (COL18A1)	NP_569711.2:n.4104+147_4104+149delinsTGG
NM_130445.3:c.2859+147_2859+149delinsTGG (COL18A1)	NP_569712.2:n.2859+147_2859+149delinsTGG
XM_011529707.1:c.1585-1736_1585-1734delinsCCA (SLC19A1)	XP_011528009.1:n.1585-1736_1585-1734delinsCCA
XM_017028445.2:c.1585-1736_1585-1734delinsCCA (SLC19A1)	XP_016883934.1:n.1585-1736_1585-1734delinsCCA
NM_030582.4:c.3399+147_3399+149delinsTGG (COL18A1)	NP_085059.2:n.3399+147_3399+149delinsTGG
NM_130444.3:c.4104+147_4104+149delinsTGG (COL18A1)	NP_569711.2:n.4104+147_4104+149delinsTGG
NM_130445.4:c.2859+147_2859+149delinsTGG (COL18A1)	NP_569712.2:n.2859+147_2859+149delinsTGG
NM_001379500.1:c.2868+147_2868+149delinsTGG (COL18A1) MANE Select	NP_001366429.1:n.2868+147_2868+149delinsTGG