Canonical Allele Identifier: CA2392196317

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511841_45511849delinsGCCAGGAGC , CM000683.2:g.45511841_45511849delinsGCCAGGAGC	GRCh38
NC_000021.8:g.46931755_46931763delinsGCCAGGAGC , CM000683.1:g.46931755_46931763delinsGCCAGGAGC	GRCh37
NC_000021.7:g.45756183_45756191delinsGCCAGGAGC	NCBI36
NG_011903.1:g.111650_111658delinsGCCAGGAGC
NG_028278.2:g.56295_56303delinsGCTCCTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4350-347_4350-339delinsGCCAGGAGC (COL18A1)	ENSP00000347665.5:n.4350-347_4350-339delinsGCCAGGAGC
ENST00000651438.1:c.3810-347_3810-339delinsGCCAGGAGC (COL18A1) MANE Select	ENSP00000498485.1:n.3810-347_3810-339delinsGCCAGGAGC
ENST00000342220.9:c.1854-347_1854-339delinsGCCAGGAGC (COL18A1)	ENSP00000339118.5:n.1854-347_1854-339delinsGCCAGGAGC
ENST00000355480.9:c.4350-347_4350-339delinsGCCAGGAGC (COL18A1)	ENSP00000347665.5:n.4350-347_4350-339delinsGCCAGGAGC
ENST00000359759.8:c.5055-347_5055-339delinsGCCAGGAGC (COL18A1)	ENSP00000352798.4:n.5055-347_5055-339delinsGCCAGGAGC
ENST00000400337.6:c.3810-347_3810-339delinsGCCAGGAGC (COL18A1)	ENSP00000383191.2:n.3810-347_3810-339delinsGCCAGGAGC
ENST00000417954.5:c.498-13237_498-13229delinsGCTCCTGGC (SLC19A1)
ENST00000423214.1:c.764-347_764-339delinsGCCAGGAGC (COL18A1)
ENST00000473212.1:n.2136-347_2136-339delinsGCCAGGAGC (COL18A1)
ENST00000567670.5:c.1294-13237_1294-13229delinsGCTCCTGGC (SLC19A1)	ENSP00000457278.1:n.1294-13237_1294-13229delinsGCTCCTGGC
NM_030582.3:c.4341-347_4341-339delinsGCCAGGAGC (COL18A1)	NP_085059.2:n.4341-347_4341-339delinsGCCAGGAGC
NM_130444.2:c.5046-347_5046-339delinsGCCAGGAGC (COL18A1)	NP_569711.2:n.5046-347_5046-339delinsGCCAGGAGC
NM_130445.3:c.3801-347_3801-339delinsGCCAGGAGC (COL18A1)	NP_569712.2:n.3801-347_3801-339delinsGCCAGGAGC
XM_011529707.1:c.1585-8880_1585-8872delinsGCTCCTGGC (SLC19A1)	XP_011528009.1:n.1585-8880_1585-8872delinsGCTCCTGGC
XM_017028445.2:c.1585-8880_1585-8872delinsGCTCCTGGC (SLC19A1)	XP_016883934.1:n.1585-8880_1585-8872delinsGCTCCTGGC
NM_030582.4:c.4341-347_4341-339delinsGCCAGGAGC (COL18A1)	NP_085059.2:n.4341-347_4341-339delinsGCCAGGAGC
NM_130444.3:c.5046-347_5046-339delinsGCCAGGAGC (COL18A1)	NP_569711.2:n.5046-347_5046-339delinsGCCAGGAGC
NM_130445.4:c.3801-347_3801-339delinsGCCAGGAGC (COL18A1)	NP_569712.2:n.3801-347_3801-339delinsGCCAGGAGC
NM_001379500.1:c.3810-347_3810-339delinsGCCAGGAGC (COL18A1) MANE Select	NP_001366429.1:n.3810-347_3810-339delinsGCCAGGAGC