Canonical Allele Identifier: CA2392196243

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511737_45511747delinsTGTCCCCAGCA , CM000683.2:g.45511737_45511747delinsTGTCCCCAGCA	GRCh38
NC_000021.8:g.46931651_46931661delinsTGTCCCCAGCA , CM000683.1:g.46931651_46931661delinsTGTCCCCAGCA	GRCh37
NC_000021.7:g.45756079_45756089delinsTGTCCCCAGCA	NCBI36
NG_011903.1:g.111546_111556delinsTGTCCCCAGCA
NG_028278.2:g.56397_56407delinsTGCTGGGGACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4350-451_4350-441delinsTGTCCCCAGCA (COL18A1)	ENSP00000347665.5:n.4350-451_4350-441delinsTGTCCCCAGCA
ENST00000651438.1:c.3810-451_3810-441delinsTGTCCCCAGCA (COL18A1) MANE Select	ENSP00000498485.1:n.3810-451_3810-441delinsTGTCCCCAGCA
ENST00000342220.9:c.1854-451_1854-441delinsTGTCCCCAGCA (COL18A1)	ENSP00000339118.5:n.1854-451_1854-441delinsTGTCCCCAGCA
ENST00000355480.9:c.4350-451_4350-441delinsTGTCCCCAGCA (COL18A1)	ENSP00000347665.5:n.4350-451_4350-441delinsTGTCCCCAGCA
ENST00000359759.8:c.5055-451_5055-441delinsTGTCCCCAGCA (COL18A1)	ENSP00000352798.4:n.5055-451_5055-441delinsTGTCCCCAGCA
ENST00000400337.6:c.3810-451_3810-441delinsTGTCCCCAGCA (COL18A1)	ENSP00000383191.2:n.3810-451_3810-441delinsTGTCCCCAGCA
ENST00000417954.5:c.498-13135_498-13125delinsTGCTGGGGACA (SLC19A1)
ENST00000423214.1:c.764-451_764-441delinsTGTCCCCAGCA (COL18A1)
ENST00000473212.1:n.2136-451_2136-441delinsTGTCCCCAGCA (COL18A1)
ENST00000567670.5:c.1294-13135_1294-13125delinsTGCTGGGGACA (SLC19A1)	ENSP00000457278.1:n.1294-13135_1294-13125delinsTGCTGGGGACA
NM_030582.3:c.4341-451_4341-441delinsTGTCCCCAGCA (COL18A1)	NP_085059.2:n.4341-451_4341-441delinsTGTCCCCAGCA
NM_130444.2:c.5046-451_5046-441delinsTGTCCCCAGCA (COL18A1)	NP_569711.2:n.5046-451_5046-441delinsTGTCCCCAGCA
NM_130445.3:c.3801-451_3801-441delinsTGTCCCCAGCA (COL18A1)	NP_569712.2:n.3801-451_3801-441delinsTGTCCCCAGCA
XM_011529707.1:c.1585-8778_1585-8768delinsTGCTGGGGACA (SLC19A1)	XP_011528009.1:n.1585-8778_1585-8768delinsTGCTGGGGACA
XM_017028445.2:c.1585-8778_1585-8768delinsTGCTGGGGACA (SLC19A1)	XP_016883934.1:n.1585-8778_1585-8768delinsTGCTGGGGACA
NM_030582.4:c.4341-451_4341-441delinsTGTCCCCAGCA (COL18A1)	NP_085059.2:n.4341-451_4341-441delinsTGTCCCCAGCA
NM_130444.3:c.5046-451_5046-441delinsTGTCCCCAGCA (COL18A1)	NP_569711.2:n.5046-451_5046-441delinsTGTCCCCAGCA
NM_130445.4:c.3801-451_3801-441delinsTGTCCCCAGCA (COL18A1)	NP_569712.2:n.3801-451_3801-441delinsTGTCCCCAGCA
NM_001379500.1:c.3810-451_3810-441delinsTGTCCCCAGCA (COL18A1) MANE Select	NP_001366429.1:n.3810-451_3810-441delinsTGTCCCCAGCA