Canonical Allele Identifier: CA2392196118

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511540_45511544delinsCGAGT , CM000683.2:g.45511540_45511544delinsCGAGT	GRCh38
NC_000021.8:g.46931454_46931458delinsCGAGT , CM000683.1:g.46931454_46931458delinsCGAGT	GRCh37
NC_000021.7:g.45755882_45755886delinsCGAGT	NCBI36
NG_011903.1:g.111349_111353delinsCGAGT
NG_028278.2:g.56600_56604delinsACTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4349+314_4349+318delinsCGAGT (COL18A1)	ENSP00000347665.5:n.4349+314_4349+318delinsCGAGT
ENST00000651438.1:c.3809+314_3809+318delinsCGAGT (COL18A1) MANE Select	ENSP00000498485.1:n.3809+314_3809+318delinsCGAGT
ENST00000342220.9:c.1853+314_1853+318delinsCGAGT (COL18A1)	ENSP00000339118.5:n.1853+314_1853+318delinsCGAGT
ENST00000355480.9:c.4349+314_4349+318delinsCGAGT (COL18A1)	ENSP00000347665.5:n.4349+314_4349+318delinsCGAGT
ENST00000359759.8:c.5054+314_5054+318delinsCGAGT (COL18A1)	ENSP00000352798.4:n.5054+314_5054+318delinsCGAGT
ENST00000400337.6:c.3809+314_3809+318delinsCGAGT (COL18A1)	ENSP00000383191.2:n.3809+314_3809+318delinsCGAGT
ENST00000417954.5:c.498-12932_498-12928delinsACTCG (SLC19A1)
ENST00000423214.1:c.763+314_763+318delinsCGAGT (COL18A1)
ENST00000473212.1:n.2135+314_2135+318delinsCGAGT (COL18A1)
ENST00000567670.5:c.1294-12932_1294-12928delinsACTCG (SLC19A1)	ENSP00000457278.1:n.1294-12932_1294-12928delinsACTCG
NM_030582.3:c.4340+314_4340+318delinsCGAGT (COL18A1)	NP_085059.2:n.4340+314_4340+318delinsCGAGT
NM_130444.2:c.5045+314_5045+318delinsCGAGT (COL18A1)	NP_569711.2:n.5045+314_5045+318delinsCGAGT
NM_130445.3:c.3800+314_3800+318delinsCGAGT (COL18A1)	NP_569712.2:n.3800+314_3800+318delinsCGAGT
XM_011529707.1:c.1585-8575_1585-8571delinsACTCG (SLC19A1)	XP_011528009.1:n.1585-8575_1585-8571delinsACTCG
XM_017028445.2:c.1585-8575_1585-8571delinsACTCG (SLC19A1)	XP_016883934.1:n.1585-8575_1585-8571delinsACTCG
NM_030582.4:c.4340+314_4340+318delinsCGAGT (COL18A1)	NP_085059.2:n.4340+314_4340+318delinsCGAGT
NM_130444.3:c.5045+314_5045+318delinsCGAGT (COL18A1)	NP_569711.2:n.5045+314_5045+318delinsCGAGT
NM_130445.4:c.3800+314_3800+318delinsCGAGT (COL18A1)	NP_569712.2:n.3800+314_3800+318delinsCGAGT
NM_001379500.1:c.3809+314_3809+318delinsCGAGT (COL18A1) MANE Select	NP_001366429.1:n.3809+314_3809+318delinsCGAGT