Canonical Allele Identifier: CA2987778631

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504526_45504534dup , CM000683.2:g.45504526_45504534dup	GRCh38
NC_000021.8:g.46924440_46924448dup , CM000683.1:g.46924440_46924448dup	GRCh37
NC_000021.7:g.45748868_45748876dup	NCBI36
NG_028278.2:g.63624_63632dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3378_3386dup (COL18A1)	ENSP00000347665.5:p.Pro1129_Arg1130insProGlyPro
ENST00000651438.1:c.2838_2846dup (COL18A1) MANE Select	ENSP00000498485.1:p.Pro949_Arg950insProGlyPro
ENST00000342220.9:c.879_887dup (COL18A1)	ENSP00000339118.5:p.Pro296_Arg297insProGlyPro
ENST00000355480.9:c.3378_3386dup (COL18A1)	ENSP00000347665.5:p.Pro1129_Arg1130insProGlyPro
ENST00000359759.8:c.4083_4091dup (COL18A1)	ENSP00000352798.4:p.Pro1364_Arg1365insProGlyPro
ENST00000400337.6:c.2838_2846dup (COL18A1)	ENSP00000383191.2:p.Pro949_Arg950insProGlyPro
ENST00000417954.5:c.498-5908_498-5900dup (SLC19A1)
ENST00000567670.5:c.1294-5908_1294-5900dup (SLC19A1)	ENSP00000457278.1:n.1294-5908_1294-5900dup
XM_011529707.1:c.1585-1551_1585-1543dup (SLC19A1)	XP_011528009.1:n.1585-1551_1585-1543dup
XM_017028445.2:c.1585-1551_1585-1543dup (SLC19A1)	XP_016883934.1:n.1585-1551_1585-1543dup
NM_001379500.1:c.2838_2846dup (COL18A1) MANE Select	NP_001366429.1:p.Pro949_Arg950insProGlyPro