Canonical Allele Identifier: CA2392190407

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504031_45504032delinsCT , CM000683.2:g.45504031_45504032delinsCT	GRCh38
NC_000021.8:g.46923945_46923946delinsCT , CM000683.1:g.46923945_46923946delinsCT	GRCh37
NC_000021.7:g.45748373_45748374delinsCT	NCBI36
NG_011903.1:g.103849_103850delinsCT
NG_028278.2:g.64112_64113delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3244_3245delinsCT (COL18A1)	ENSP00000347665.5:p.Leu1082=
ENST00000651438.1:c.2704_2705delinsCT (COL18A1) MANE Select	ENSP00000498485.1:p.Leu902=
ENST00000342220.9:c.745_746delinsCT (COL18A1)	ENSP00000339118.5:p.Leu249=
ENST00000355480.9:c.3244_3245delinsCT (COL18A1)	ENSP00000347665.5:p.Leu1082=
ENST00000359759.8:c.3949_3950delinsCT (COL18A1)	ENSP00000352798.4:p.Leu1317=
ENST00000400337.6:c.2704_2705delinsCT (COL18A1)	ENSP00000383191.2:p.Leu902=
ENST00000417954.5:c.498-5420_498-5419delinsAG (SLC19A1)
ENST00000461785.1:n.90_91delinsAG (SLC19A1)
ENST00000567670.5:c.1294-5420_1294-5419delinsAG (SLC19A1)	ENSP00000457278.1:n.1294-5420_1294-5419delinsAG
NM_030582.3:c.3244_3245delinsCT (COL18A1)	NP_085059.2:p.Leu1082=
NM_130444.2:c.3949_3950delinsCT (COL18A1)	NP_569711.2:p.Leu1317=
NM_130445.3:c.2704_2705delinsCT (COL18A1)	NP_569712.2:p.Leu902=
XM_011529707.1:c.1585-1063_1585-1062delinsAG (SLC19A1)	XP_011528009.1:n.1585-1063_1585-1062delinsAG
XM_017028445.2:c.1585-1063_1585-1062delinsAG (SLC19A1)	XP_016883934.1:n.1585-1063_1585-1062delinsAG
NM_030582.4:c.3244_3245delinsCT (COL18A1)	NP_085059.2:p.Leu1082=
NM_130444.3:c.3949_3950delinsCT (COL18A1)	NP_569711.2:p.Leu1317=
NM_130445.4:c.2704_2705delinsCT (COL18A1)	NP_569712.2:p.Leu902=
NM_001379500.1:c.2704_2705delinsCT (COL18A1) MANE Select	NP_001366429.1:p.Leu902=