Canonical Allele Identifier: CA10067571

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 1380459
• ClinVar RCV Id: RCV001886370
• dbSNP Id: rs760640619
• ExAC: 21:46925131 G / GGGCCCTCCC
• gnomAD v2: 21-46925131-G-GGGCCCTCCC
• gnomAD v4: 21-45505217-G-GGGCCCTCCC
• MyVariant Identifiers: chr21:g.46925140_46925141insGGCCCTCCC (hg19) ; chr21:g.46925131_46925132insGGCCCTCCC (hg19) ; chr21:g.45505217_45505218insGGCCCTCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505223_45505231dup , CM000683.2:g.45505223_45505231dup	GRCh38
NC_000021.8:g.46925137_46925145dup , CM000683.1:g.46925137_46925145dup	GRCh37
NC_000021.7:g.45749565_45749573dup	NCBI36
NG_011903.1:g.105032_105040dup
NG_028278.2:g.62918_62926dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3498_3506dup (COL18A1)	ENSP00000347665.5:p.Pro1169_Pro1170insProGlyPro
ENST00000651438.1:c.2958_2966dup (COL18A1) MANE Select	ENSP00000498485.1:p.Pro989_Pro990insProGlyPro
ENST00000342220.9:c.999_1007dup (COL18A1)	ENSP00000339118.5:p.Pro336_Pro337insProGlyPro
ENST00000355480.9:c.3498_3506dup (COL18A1)	ENSP00000347665.5:p.Pro1169_Pro1170insProGlyPro
ENST00000359759.8:c.4203_4211dup (COL18A1)	ENSP00000352798.4:p.Pro1404_Pro1405insProGlyPro
ENST00000400337.6:c.2958_2966dup (COL18A1)	ENSP00000383191.2:p.Pro989_Pro990insProGlyPro
ENST00000417954.5:c.498-6614_498-6606dup (SLC19A1)
ENST00000567670.5:c.1294-6614_1294-6606dup (SLC19A1)	ENSP00000457278.1:n.1294-6614_1294-6606dup
NM_030582.3:c.3489_3497dup (COL18A1)	NP_085059.2:p.Pro1166_Pro1167insProGlyPro
NM_130444.2:c.4194_4202dup (COL18A1)	NP_569711.2:p.Pro1401_Pro1402insProGlyPro
NM_130445.3:c.2949_2957dup (COL18A1)	NP_569712.2:p.Pro986_Pro987insProGlyPro
XM_011529707.1:c.1585-2257_1585-2249dup (SLC19A1)	XP_011528009.1:n.1585-2257_1585-2249dup
XM_017028445.2:c.1585-2257_1585-2249dup (SLC19A1)	XP_016883934.1:n.1585-2257_1585-2249dup
NM_030582.4:c.3489_3497dup (COL18A1)	NP_085059.2:p.Pro1166_Pro1167insProGlyPro
NM_130444.3:c.4194_4202dup (COL18A1)	NP_569711.2:p.Pro1401_Pro1402insProGlyPro
NM_130445.4:c.2949_2957dup (COL18A1)	NP_569712.2:p.Pro986_Pro987insProGlyPro
NM_001379500.1:c.2958_2966dup (COL18A1) MANE Select	NP_001366429.1:p.Pro989_Pro990insProGlyPro