Canonical Allele Identifier: CA749787629

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs1240245532
• MyVariant Identifiers: chr21:g.46924409_46924426del (hg19) ; chr21:g.45504495_45504512del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504498_45504515del , CM000683.2:g.45504498_45504515del	GRCh38
NC_000021.8:g.46924412_46924429del , CM000683.1:g.46924412_46924429del	GRCh37
NC_000021.7:g.45748840_45748857del	NCBI36
NG_028278.2:g.63632_63649del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3350_3367del (COL18A1)	ENSP00000347665.5:p.Leu1117_Gly1122del
ENST00000651438.1:c.2810_2827del (COL18A1) MANE Select	ENSP00000498485.1:p.Leu937_Gly942del
ENST00000342220.9:c.851_868del (COL18A1)	ENSP00000339118.5:p.Leu284_Gly289del
ENST00000355480.9:c.3350_3367del (COL18A1)	ENSP00000347665.5:p.Leu1117_Gly1122del
ENST00000359759.8:c.4055_4072del (COL18A1)	ENSP00000352798.4:p.Leu1352_Gly1357del
ENST00000400337.6:c.2810_2827del (COL18A1)	ENSP00000383191.2:p.Leu937_Gly942del
ENST00000417954.5:c.498-5900_498-5883del (SLC19A1)
ENST00000567670.5:c.1294-5900_1294-5883del (SLC19A1)	ENSP00000457278.1:n.1294-5900_1294-5883de...
NM_030582.3:c.3350_3367del (COL18A1)	NP_085059.2:p.Leu1117_Gly1122del
NM_130444.2:c.4055_4072del (COL18A1)	NP_569711.2:p.Leu1352_Gly1357del
NM_130445.3:c.2810_2827del (COL18A1)	NP_569712.2:p.Leu937_Gly942del
XM_011529707.1:c.1585-1543_1585-1526del (SLC19A1)	XP_011528009.1:n.1585-1543_1585-1526del
XM_017028445.2:c.1585-1543_1585-1526del (SLC19A1)	XP_016883934.1:n.1585-1543_1585-1526del
NM_030582.4:c.3350_3367del (COL18A1)	NP_085059.2:p.Leu1117_Gly1122del
NM_130444.3:c.4055_4072del (COL18A1)	NP_569711.2:p.Leu1352_Gly1357del
NM_130445.4:c.2810_2827del (COL18A1)	NP_569712.2:p.Leu937_Gly942del
NM_001379500.1:c.2810_2827del (COL18A1) MANE Select	NP_001366429.1:p.Leu937_Gly942del