Canonical Allele Identifier: CA2392190735

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504511_45504529delinsCGGCCCCCCAGGCCCCCCA , CM000683.2:g.45504511_45504529delinsCGGCCCCCCAGGCCCCCCA	GRCh38
NC_000021.8:g.46924425_46924443delinsCGGCCCCCCAGGCCCCCCA , CM000683.1:g.46924425_46924443delinsCGGCCCCCCAGGCCCCCCA	GRCh37
NC_000021.7:g.45748853_45748871delinsCGGCCCCCCAGGCCCCCCA	NCBI36
NG_028278.2:g.63615_63633delinsTGGGGGGCCTGGGGGGCCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3363_3381delinsCGGCCCCCCAGGCCCCCCA (COL18A1)	ENSP00000347665.5:p.Pro1121=
ENST00000651438.1:c.2823_2841delinsCGGCCCCCCAGGCCCCCCA (COL18A1) MANE Select	ENSP00000498485.1:p.Pro941=
ENST00000342220.9:c.864_882delinsCGGCCCCCCAGGCCCCCCA (COL18A1)	ENSP00000339118.5:p.Pro288=
ENST00000355480.9:c.3363_3381delinsCGGCCCCCCAGGCCCCCCA (COL18A1)	ENSP00000347665.5:p.Pro1121=
ENST00000359759.8:c.4068_4086delinsCGGCCCCCCAGGCCCCCCA (COL18A1)	ENSP00000352798.4:p.Pro1356=
ENST00000400337.6:c.2823_2841delinsCGGCCCCCCAGGCCCCCCA (COL18A1)	ENSP00000383191.2:p.Pro941=
ENST00000417954.5:c.498-5917_498-5899delinsTGGGGGGCCTGGGGGGCCG (SLC19A1)
ENST00000567670.5:c.1294-5917_1294-5899delinsTGGGGGGCCTGGGGGGCCG (SLC19A1)	ENSP00000457278.1:n.1294-5917_1294-5899de...
XM_011529707.1:c.1585-1560_1585-1542delinsTGGGGGGCCTGGGGGGCCG (SLC19A1)	XP_011528009.1:n.1585-1560_1585-1542delin...
XM_017028445.2:c.1585-1560_1585-1542delinsTGGGGGGCCTGGGGGGCCG (SLC19A1)	XP_016883934.1:n.1585-1560_1585-1542delin...
NM_001379500.1:c.2823_2841delinsCGGCCCCCCAGGCCCCCCA (COL18A1) MANE Select	NP_001366429.1:p.Pro941=