Canonical Allele Identifier: CA1139771582

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504530_45504535del , CM000683.2:g.45504530_45504535del	GRCh38
NC_000021.8:g.46924444_46924449del , CM000683.1:g.46924444_46924449del	GRCh37
NC_000021.7:g.45748872_45748877del	NCBI36
NG_011903.1:g.104339_104344del
NG_028278.2:g.63613_63618del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3382_3387del (COL18A1)	ENSP00000347665.5:p.Gly1128_Pro1129del
ENST00000651438.1:c.2842_2847del (COL18A1) MANE Select	ENSP00000498485.1:p.Gly948_Pro949del
ENST00000342220.9:c.883_888del (COL18A1)	ENSP00000339118.5:p.Gly295_Pro296del
ENST00000355480.9:c.3382_3387del (COL18A1)	ENSP00000347665.5:p.Gly1128_Pro1129del
ENST00000359759.8:c.4087_4092del (COL18A1)	ENSP00000352798.4:p.Gly1363_Pro1364del
ENST00000400337.6:c.2842_2847del (COL18A1)	ENSP00000383191.2:p.Gly948_Pro949del
ENST00000417954.5:c.498-5919_498-5914del (SLC19A1)
ENST00000567670.5:c.1294-5919_1294-5914del (SLC19A1)	ENSP00000457278.1:n.1294-5919_1294-5914de...
XM_011529707.1:c.1585-1562_1585-1557del (SLC19A1)	XP_011528009.1:n.1585-1562_1585-1557del
XM_017028445.2:c.1585-1562_1585-1557del (SLC19A1)	XP_016883934.1:n.1585-1562_1585-1557del
NM_001379500.1:c.2842_2847del (COL18A1) MANE Select	NP_001366429.1:p.Gly948_Pro949del