Canonical Allele Identifier: CA2573157802

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 1430023
• ClinVar RCV Id: RCV001967402
• dbSNP Id: rs2146081689

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505244_45505253dup , CM000683.2:g.45505244_45505253dup	GRCh38
NC_000021.8:g.46925158_46925167dup , CM000683.1:g.46925158_46925167dup	GRCh37
NC_000021.7:g.45749586_45749595dup	NCBI36
NG_011903.1:g.105053_105062dup
NG_028278.2:g.62891_62900dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3519_3528dup (COL18A1)	ENSP00000347665.5:p.Ser1177ArgfsTer?
ENST00000651438.1:c.2979_2988dup (COL18A1) MANE Select	ENSP00000498485.1:p.Ser997ArgfsTer?
ENST00000342220.9:c.1020_1029dup (COL18A1)	ENSP00000339118.5:p.Ser344ArgfsTer?
ENST00000355480.9:c.3519_3528dup (COL18A1)	ENSP00000347665.5:p.Ser1177ArgfsTer?
ENST00000359759.8:c.4224_4233dup (COL18A1)	ENSP00000352798.4:p.Ser1412ArgfsTer?
ENST00000400337.6:c.2979_2988dup (COL18A1)	ENSP00000383191.2:p.Ser997ArgfsTer?
ENST00000417954.5:c.498-6641_498-6632dup (SLC19A1)
ENST00000567670.5:c.1294-6641_1294-6632dup (SLC19A1)	ENSP00000457278.1:n.1294-6641_1294-6632du...
NM_030582.3:c.3510_3519dup (COL18A1)	NP_085059.2:p.Ser1174ArgfsTer?
NM_130444.2:c.4215_4224dup (COL18A1)	NP_569711.2:p.Ser1409ArgfsTer?
NM_130445.3:c.2970_2979dup (COL18A1)	NP_569712.2:p.Ser994ArgfsTer?
XM_011529707.1:c.1585-2284_1585-2275dup (SLC19A1)	XP_011528009.1:n.1585-2284_1585-2275dup
XM_017028445.2:c.1585-2284_1585-2275dup (SLC19A1)	XP_016883934.1:n.1585-2284_1585-2275dup
NM_030582.4:c.3510_3519dup (COL18A1)	NP_085059.2:p.Ser1174ArgfsTer?
NM_130444.3:c.4215_4224dup (COL18A1)	NP_569711.2:p.Ser1409ArgfsTer?
NM_130445.4:c.2970_2979dup (COL18A1)	NP_569712.2:p.Ser994ArgfsTer?
NM_001379500.1:c.2979_2988dup (COL18A1) MANE Select	NP_001366429.1:p.Ser997ArgfsTer?