Canonical Allele Identifier: CA2580098859

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 2040243
• ClinVar RCV Id: RCV002886327

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505225_45505252del , CM000683.2:g.45505225_45505252del	GRCh38
NC_000021.8:g.46925139_46925166del , CM000683.1:g.46925139_46925166del	GRCh37
NC_000021.7:g.45749567_45749594del	NCBI36
NG_011903.1:g.105034_105061del
NG_028278.2:g.62893_62920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3500_3527del (COL18A1)	ENSP00000347665.5:p.Pro1167LeufsTer?
ENST00000651438.1:c.2960_2987del (COL18A1) MANE Select	ENSP00000498485.1:p.Pro987LeufsTer?
ENST00000342220.9:c.1001_1028del (COL18A1)	ENSP00000339118.5:p.Pro334LeufsTer?
ENST00000355480.9:c.3500_3527del (COL18A1)	ENSP00000347665.5:p.Pro1167LeufsTer?
ENST00000359759.8:c.4205_4232del (COL18A1)	ENSP00000352798.4:p.Pro1402LeufsTer?
ENST00000400337.6:c.2960_2987del (COL18A1)	ENSP00000383191.2:p.Pro987LeufsTer?
ENST00000417954.5:c.498-6639_498-6612del (SLC19A1)
ENST00000567670.5:c.1294-6639_1294-6612del (SLC19A1)	ENSP00000457278.1:n.1294-6639_1294-6612del
NM_030582.3:c.3491_3518del (COL18A1)	NP_085059.2:p.Pro1164LeufsTer?
NM_130444.2:c.4196_4223del (COL18A1)	NP_569711.2:p.Pro1399LeufsTer?
NM_130445.3:c.2951_2978del (COL18A1)	NP_569712.2:p.Pro984LeufsTer?
XM_011529707.1:c.1585-2282_1585-2255del (SLC19A1)	XP_011528009.1:n.1585-2282_1585-2255del
XM_017028445.2:c.1585-2282_1585-2255del (SLC19A1)	XP_016883934.1:n.1585-2282_1585-2255del
NM_030582.4:c.3491_3518del (COL18A1)	NP_085059.2:p.Pro1164LeufsTer?
NM_130444.3:c.4196_4223del (COL18A1)	NP_569711.2:p.Pro1399LeufsTer?
NM_130445.4:c.2951_2978del (COL18A1)	NP_569712.2:p.Pro984LeufsTer?
NM_001379500.1:c.2960_2987del (COL18A1) MANE Select	NP_001366429.1:p.Pro987LeufsTer?