Canonical Allele Identifier: CA16609791

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 402552
• ClinVar RCV Id: RCV000455236
• dbSNP Id: rs776751637
• gnomAD v3: 21-45505223-T-TCCCGGCCCC
• gnomAD v4: 21-45505223-T-TCCCGGCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505226_45505234dup , CM000683.2:g.45505226_45505234dup	GRCh38
NC_000021.8:g.46925140_46925148dup , CM000683.1:g.46925140_46925148dup	GRCh37
NC_000021.7:g.45749568_45749576dup	NCBI36
NG_011903.1:g.105035_105043dup
NG_028278.2:g.62912_62920dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3501_3509dup (COL18A1)	ENSP00000347665.5:p.Pro1170_Gly1171insGlyProPro
ENST00000651438.1:c.2961_2969dup (COL18A1) MANE Select	ENSP00000498485.1:p.Pro990_Gly991insGlyProPro
ENST00000342220.9:c.1002_1010dup (COL18A1)	ENSP00000339118.5:p.Pro337_Gly338insGlyProPro
ENST00000355480.9:c.3501_3509dup (COL18A1)	ENSP00000347665.5:p.Pro1170_Gly1171insGlyProPro
ENST00000359759.8:c.4206_4214dup (COL18A1)	ENSP00000352798.4:p.Pro1405_Gly1406insGlyProPro
ENST00000400337.6:c.2961_2969dup (COL18A1)	ENSP00000383191.2:p.Pro990_Gly991insGlyProPro
ENST00000417954.5:c.498-6620_498-6612dup (SLC19A1)
ENST00000567670.5:c.1294-6620_1294-6612dup (SLC19A1)	ENSP00000457278.1:n.1294-6620_1294-6612dup
NM_030582.3:c.3492_3500dup (COL18A1)	NP_085059.2:p.Pro1167_Gly1168insGlyProPro
NM_130444.2:c.4197_4205dup (COL18A1)	NP_569711.2:p.Pro1402_Gly1403insGlyProPro
NM_130445.3:c.2952_2960dup (COL18A1)	NP_569712.2:p.Pro987_Gly988insGlyProPro
XM_011529707.1:c.1585-2263_1585-2255dup (SLC19A1)	XP_011528009.1:n.1585-2263_1585-2255dup
XM_017028445.2:c.1585-2263_1585-2255dup (SLC19A1)	XP_016883934.1:n.1585-2263_1585-2255dup
NM_030582.4:c.3492_3500dup (COL18A1)	NP_085059.2:p.Pro1167_Gly1168insGlyProPro
NM_130444.3:c.4197_4205dup (COL18A1)	NP_569711.2:p.Pro1402_Gly1403insGlyProPro
NM_130445.4:c.2952_2960dup (COL18A1)	NP_569712.2:p.Pro987_Gly988insGlyProPro
NM_001379500.1:c.2961_2969dup (COL18A1) MANE Select	NP_001366429.1:p.Pro990_Gly991insGlyProPro