Canonical Allele Identifier: CA321921303

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs945823170
• gnomAD v2: 21-46924733-T-TGGGCC
• gnomAD v3: 21-45504819-T-TGGGCC
• gnomAD v4: 21-45504819-T-TGGGCC
• MyVariant Identifiers: chr21:g.46924733_46924734insGGGCC (hg19) ; chr21:g.45504819_45504820insGGGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504823_45504827dup , CM000683.2:g.45504823_45504827dup	GRCh38
NC_000021.8:g.46924737_46924741dup , CM000683.1:g.46924737_46924741dup	GRCh37
NC_000021.7:g.45749165_45749169dup	NCBI36
NG_011903.1:g.104632_104636dup
NG_028278.2:g.63320_63324dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3408+267_3408+271dup (COL18A1)	ENSP00000347665.5:n.3408+267_3408+271dup
ENST00000651438.1:c.2868+267_2868+271dup (COL18A1) MANE Select	ENSP00000498485.1:n.2868+267_2868+271dup
ENST00000342220.9:c.909+267_909+271dup (COL18A1)	ENSP00000339118.5:n.909+267_909+271dup
ENST00000355480.9:c.3408+267_3408+271dup (COL18A1)	ENSP00000347665.5:n.3408+267_3408+271dup
ENST00000359759.8:c.4113+267_4113+271dup (COL18A1)	ENSP00000352798.4:n.4113+267_4113+271dup
ENST00000400337.6:c.2868+267_2868+271dup (COL18A1)	ENSP00000383191.2:n.2868+267_2868+271dup
ENST00000417954.5:c.498-6212_498-6208dup (SLC19A1)
ENST00000567670.5:c.1294-6212_1294-6208dup (SLC19A1)	ENSP00000457278.1:n.1294-6212_1294-6208dup
NM_030582.3:c.3399+267_3399+271dup (COL18A1)	NP_085059.2:n.3399+267_3399+271dup
NM_130444.2:c.4104+267_4104+271dup (COL18A1)	NP_569711.2:n.4104+267_4104+271dup
NM_130445.3:c.2859+267_2859+271dup (COL18A1)	NP_569712.2:n.2859+267_2859+271dup
XM_011529707.1:c.1585-1855_1585-1851dup (SLC19A1)	XP_011528009.1:n.1585-1855_1585-1851dup
XM_017028445.2:c.1585-1855_1585-1851dup (SLC19A1)	XP_016883934.1:n.1585-1855_1585-1851dup
NM_030582.4:c.3399+267_3399+271dup (COL18A1)	NP_085059.2:n.3399+267_3399+271dup
NM_130444.3:c.4104+267_4104+271dup (COL18A1)	NP_569711.2:n.4104+267_4104+271dup
NM_130445.4:c.2859+267_2859+271dup (COL18A1)	NP_569712.2:n.2859+267_2859+271dup
NM_001379500.1:c.2868+267_2868+271dup (COL18A1) MANE Select	NP_001366429.1:n.2868+267_2868+271dup