Canonical Allele Identifier: CA749787129

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs1379078032
• gnomAD v3: 21-45503810-TAAAATAA-T
• gnomAD v4: 21-45503810-TAAAATAA-T
• MyVariant Identifiers: chr21:g.46923725_46923731del (hg19) ; chr21:g.45503811_45503817del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45503814_45503820del , CM000683.2:g.45503814_45503820del	GRCh38
NC_000021.8:g.46923728_46923734del , CM000683.1:g.46923728_46923734del	GRCh37
NC_000021.7:g.45748156_45748162del	NCBI36
NG_011903.1:g.103632_103638del
NG_028278.2:g.64327_64333del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3224-197_3224-191del (COL18A1)	ENSP00000347665.5:n.3224-197_3224-191del
ENST00000651438.1:c.2684-197_2684-191del (COL18A1) MANE Select	ENSP00000498485.1:n.2684-197_2684-191del
ENST00000342220.9:c.725-197_725-191del (COL18A1)	ENSP00000339118.5:n.725-197_725-191del
ENST00000355480.9:c.3224-197_3224-191del (COL18A1)	ENSP00000347665.5:n.3224-197_3224-191del
ENST00000359759.8:c.3929-197_3929-191del (COL18A1)	ENSP00000352798.4:n.3929-197_3929-191del
ENST00000400337.6:c.2684-197_2684-191del (COL18A1)	ENSP00000383191.2:n.2684-197_2684-191del
ENST00000417954.5:c.498-5205_498-5199del (SLC19A1)
ENST00000461785.1:n.189+116_189+122del (SLC19A1)
ENST00000567670.5:c.1294-5205_1294-5199del (SLC19A1)	ENSP00000457278.1:n.1294-5205_1294-5199del
NM_030582.3:c.3224-197_3224-191del (COL18A1)	NP_085059.2:n.3224-197_3224-191del
NM_130444.2:c.3929-197_3929-191del (COL18A1)	NP_569711.2:n.3929-197_3929-191del
NM_130445.3:c.2684-197_2684-191del (COL18A1)	NP_569712.2:n.2684-197_2684-191del
XM_011529707.1:c.1585-848_1585-842del (SLC19A1)	XP_011528009.1:n.1585-848_1585-842del
XM_017028445.2:c.1585-848_1585-842del (SLC19A1)	XP_016883934.1:n.1585-848_1585-842del
NM_030582.4:c.3224-197_3224-191del (COL18A1)	NP_085059.2:n.3224-197_3224-191del
NM_130444.3:c.3929-197_3929-191del (COL18A1)	NP_569711.2:n.3929-197_3929-191del
NM_130445.4:c.2684-197_2684-191del (COL18A1)	NP_569712.2:n.2684-197_2684-191del
NM_001379500.1:c.2684-197_2684-191del (COL18A1) MANE Select	NP_001366429.1:n.2684-197_2684-191del