Canonical Allele Identifier: CA1022823883

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v3: 21-45504520-A-AG
• gnomAD v4: 21-45504520-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504522dup , CM000683.2:g.45504522dup	GRCh38
NC_000021.8:g.46924436dup , CM000683.1:g.46924436dup	GRCh37
NC_000021.7:g.45748864dup	NCBI36
NG_011903.1:g.104331dup
NG_028278.2:g.63623dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3374dup (COL18A1)	ENSP00000347665.5:p.Gly1128ArgfsTer?
ENST00000651438.1:c.2834dup (COL18A1) MANE Select	ENSP00000498485.1:p.Gly948ArgfsTer?
ENST00000342220.9:c.875dup (COL18A1)	ENSP00000339118.5:p.Gly295ArgfsTer?
ENST00000355480.9:c.3374dup (COL18A1)	ENSP00000347665.5:p.Gly1128ArgfsTer?
ENST00000359759.8:c.4079dup (COL18A1)	ENSP00000352798.4:p.Gly1363ArgfsTer?
ENST00000400337.6:c.2834dup (COL18A1)	ENSP00000383191.2:p.Gly948ArgfsTer?
ENST00000417954.5:c.498-5909dup (SLC19A1)
ENST00000567670.5:c.1294-5909dup (SLC19A1)	ENSP00000457278.1:n.1294-5909dup
NM_030582.3:c.3374dup (COL18A1)	NP_085059.2:p.Arg1127ThrfsTer?
NM_130444.2:c.4079dup (COL18A1)	NP_569711.2:p.Arg1362ThrfsTer?
NM_130445.3:c.2834dup (COL18A1)	NP_569712.2:p.Arg947ThrfsTer?
XM_011529707.1:c.1585-1552dup (SLC19A1)	XP_011528009.1:n.1585-1552dup
XM_017028445.2:c.1585-1552dup (SLC19A1)	XP_016883934.1:n.1585-1552dup
NM_030582.4:c.3374dup (COL18A1)	NP_085059.2:p.Arg1127ThrfsTer?
NM_130444.3:c.4079dup (COL18A1)	NP_569711.2:p.Arg1362ThrfsTer?
NM_130445.4:c.2834dup (COL18A1)	NP_569712.2:p.Arg947ThrfsTer?
NM_001379500.1:c.2834dup (COL18A1) MANE Select	NP_001366429.1:p.Gly948ArgfsTer?