Canonical Allele Identifier: CA2654921926

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v4: 21-45511217-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511221dup , CM000683.2:g.45511221dup	GRCh38
NC_000021.8:g.46931135dup , CM000683.1:g.46931135dup	GRCh37
NC_000021.7:g.45755563dup	NCBI36
NG_011903.1:g.111030dup
NG_028278.2:g.56926dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4344dup (COL18A1)	ENSP00000347665.5:p.Thr1449HisfsTer24
ENST00000651438.1:c.3804dup (COL18A1) MANE Select	ENSP00000498485.1:p.Thr1269HisfsTer24
ENST00000342220.9:c.1848dup (COL18A1)	ENSP00000339118.5:p.Thr617HisfsTer24
ENST00000355480.9:c.4344dup (COL18A1)	ENSP00000347665.5:p.Thr1449HisfsTer24
ENST00000359759.8:c.5049dup (COL18A1)	ENSP00000352798.4:p.Thr1684HisfsTer24
ENST00000400337.6:c.3804dup (COL18A1)	ENSP00000383191.2:p.Thr1269HisfsTer24
ENST00000417954.5:c.498-12606dup (SLC19A1)
ENST00000423214.1:c.758dup (COL18A1)
ENST00000473212.1:n.2130dup (COL18A1)
ENST00000567670.5:c.1294-12606dup (SLC19A1)	ENSP00000457278.1:n.1294-12606dup
NM_030582.3:c.4335dup (COL18A1)	NP_085059.2:p.Thr1446HisfsTer24
NM_130444.2:c.5040dup (COL18A1)	NP_569711.2:p.Thr1681HisfsTer24
NM_130445.3:c.3795dup (COL18A1)	NP_569712.2:p.Thr1266HisfsTer24
XM_011529707.1:c.1585-8249dup (SLC19A1)	XP_011528009.1:n.1585-8249dup
XM_017028445.2:c.1585-8249dup (SLC19A1)	XP_016883934.1:n.1585-8249dup
NM_030582.4:c.4335dup (COL18A1)	NP_085059.2:p.Thr1446HisfsTer24
NM_130444.3:c.5040dup (COL18A1)	NP_569711.2:p.Thr1681HisfsTer24
NM_130445.4:c.3795dup (COL18A1)	NP_569712.2:p.Thr1266HisfsTer24
NM_001379500.1:c.3804dup (COL18A1) MANE Select	NP_001366429.1:p.Thr1269HisfsTer24