Canonical Allele Identifier: CA10067460

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 632383
• ClinVar RCV Id: RCV000779358 ; RCV003688884
• dbSNP Id: rs771218061
• ExAC: 21:46924382 C / CT
• gnomAD v2: 21-46924382-C-CT
• gnomAD v4: 21-45504468-C-CT
• MyVariant Identifiers: chr21:g.46924382_46924383insT (hg19) ; chr21:g.45504468_45504469insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504468_45504469insT , CM000683.2:g.45504468_45504469insT	GRCh38
NC_000021.8:g.46924382_46924383insT , CM000683.1:g.46924382_46924383insT	GRCh37
NC_000021.7:g.45748810_45748811insT	NCBI36
NG_011903.1:g.104286_104287insT
NG_028278.2:g.63675_63676insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3320_3321insT (COL18A1)	ENSP00000347665.5:p.Gly1108ArgfsTer?
ENST00000651438.1:c.2780_2781insT (COL18A1) MANE Select	ENSP00000498485.1:p.Gly928ArgfsTer?
ENST00000342220.9:c.821_822insT (COL18A1)	ENSP00000339118.5:p.Gly275ArgfsTer?
ENST00000355480.9:c.3320_3321insT (COL18A1)	ENSP00000347665.5:p.Gly1108ArgfsTer?
ENST00000359759.8:c.4025_4026insT (COL18A1)	ENSP00000352798.4:p.Gly1343ArgfsTer?
ENST00000400337.6:c.2780_2781insT (COL18A1)	ENSP00000383191.2:p.Gly928ArgfsTer?
ENST00000417954.5:c.498-5857_498-5856insA (SLC19A1)
ENST00000567670.5:c.1294-5857_1294-5856insA (SLC19A1)	ENSP00000457278.1:n.1294-5857_1294-5856insA
NM_030582.3:c.3320_3321insT (COL18A1)	NP_085059.2:p.Gly1108ArgfsTer?
NM_130444.2:c.4025_4026insT (COL18A1)	NP_569711.2:p.Gly1343ArgfsTer?
NM_130445.3:c.2780_2781insT (COL18A1)	NP_569712.2:p.Gly928ArgfsTer?
XM_011529707.1:c.1585-1500_1585-1499insA (SLC19A1)	XP_011528009.1:n.1585-1500_1585-1499insA
XM_017028445.2:c.1585-1500_1585-1499insA (SLC19A1)	XP_016883934.1:n.1585-1500_1585-1499insA
NM_030582.4:c.3320_3321insT (COL18A1)	NP_085059.2:p.Gly1108ArgfsTer?
NM_130444.3:c.4025_4026insT (COL18A1)	NP_569711.2:p.Gly1343ArgfsTer?
NM_130445.4:c.2780_2781insT (COL18A1)	NP_569712.2:p.Gly928ArgfsTer?
NM_001379500.1:c.2780_2781insT (COL18A1) MANE Select	NP_001366429.1:p.Gly928ArgfsTer?