Canonical Allele Identifier: CA1022833622

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v3: 21-45511852-G-GGAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCA
• gnomAD v4: 21-45511852-G-GGAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511853_45511854insAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCAG , CM000683.2:g.45511853_45511854insAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCAG	GRCh38
NC_000021.8:g.46931767_46931768insAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCAG , CM000683.1:g.46931767_46931768insAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCAG	GRCh37
NC_000021.7:g.45756195_45756196insAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCAG	NCBI36
NG_011903.1:g.111662_111663insAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCAG
NG_028278.2:g.56291_56292insTGGGCTCCTGGCTTTCAGGCCAGGAGCCCAGGAGGCGGAGCTGGTTCCTAGCGAGGCAGCCACAGGAAGCAGCTCCGCCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4350-335_4350-334insAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCAG (COL18A1)	ENSP00000347665.5:n.4350-335_4350-334insAGGCGGAGCTGCTTCCTGTGG...
ENST00000651438.1:c.3810-335_3810-334insAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCAG (COL18A1) MANE Select	ENSP00000498485.1:n.3810-335_3810-334insAGGCGGAGCTGCTTCCTGTGG...
ENST00000342220.9:c.1854-335_1854-334insAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCAG (COL18A1)	ENSP00000339118.5:n.1854-335_1854-334insAGGCGGAGCTGCTTCCTGTGG...
ENST00000355480.9:c.4350-335_4350-334insAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCAG (COL18A1)	ENSP00000347665.5:n.4350-335_4350-334insAGGCGGAGCTGCTTCCTGTGG...
ENST00000359759.8:c.5055-335_5055-334insAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCAG (COL18A1)	ENSP00000352798.4:n.5055-335_5055-334insAGGCGGAGCTGCTTCCTGTGG...
ENST00000400337.6:c.3810-335_3810-334insAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCAG (COL18A1)	ENSP00000383191.2:n.3810-335_3810-334insAGGCGGAGCTGCTTCCTGTGG...
ENST00000417954.5:c.498-13241_498-13240insTGGGCTCCTGGCTTTCAGGCCAGGAGCCCAGGAGGCGGAGCTGGTTCCTAGCGAGGCAGCCACAGGAAGCAGCTCCGCCTC (SLC19A1)
ENST00000423214.1:c.764-335_764-334insAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCAG (COL18A1)
ENST00000473212.1:n.2136-335_2136-334insAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCAG (COL18A1)
ENST00000567670.5:c.1294-13241_1294-13240insTGGGCTCCTGGCTTTCAGGCCAGGAGCCCAGGAGGCGGAGCTGGTTCCTAGCGAGGCAGCCACAGGAAGCAGCTCCGCCTC (SLC19A1)	ENSP00000457278.1:n.1294-13241_1294-13240insTGGGCTCCTGGCTTTCA...
NM_030582.3:c.4341-335_4341-334insAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCAG (COL18A1)	NP_085059.2:n.4341-335_4341-334insAGGCGGAGCTGCTTCCTGTGGCTGCCT...
NM_130444.2:c.5046-335_5046-334insAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCAG (COL18A1)	NP_569711.2:n.5046-335_5046-334insAGGCGGAGCTGCTTCCTGTGGCTGCCT...
NM_130445.3:c.3801-335_3801-334insAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCAG (COL18A1)	NP_569712.2:n.3801-335_3801-334insAGGCGGAGCTGCTTCCTGTGGCTGCCT...
XM_011529707.1:c.1585-8884_1585-8883insTGGGCTCCTGGCTTTCAGGCCAGGAGCCCAGGAGGCGGAGCTGGTTCCTAGCGAGGCAGCCACAGGAAGCAGCTCCGCCTC (SLC19A1)	XP_011528009.1:n.1585-8884_1585-8883insTGGGCTCCTGGCTTTCAGGCCA...
XM_017028445.2:c.1585-8884_1585-8883insTGGGCTCCTGGCTTTCAGGCCAGGAGCCCAGGAGGCGGAGCTGGTTCCTAGCGAGGCAGCCACAGGAAGCAGCTCCGCCTC (SLC19A1)	XP_016883934.1:n.1585-8884_1585-8883insTGGGCTCCTGGCTTTCAGGCCA...
NM_030582.4:c.4341-335_4341-334insAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCAG (COL18A1)	NP_085059.2:n.4341-335_4341-334insAGGCGGAGCTGCTTCCTGTGGCTGCCT...
NM_130444.3:c.5046-335_5046-334insAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCAG (COL18A1)	NP_569711.2:n.5046-335_5046-334insAGGCGGAGCTGCTTCCTGTGGCTGCCT...
NM_130445.4:c.3801-335_3801-334insAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCAG (COL18A1)	NP_569712.2:n.3801-335_3801-334insAGGCGGAGCTGCTTCCTGTGGCTGCCT...
NM_001379500.1:c.3810-335_3810-334insAGGCGGAGCTGCTTCCTGTGGCTGCCTCGCTAGGAACCAGCTCCGCCTCCTGGGCTCCTGGCCTGAAAGCCAGGAGCCCAG (COL18A1) MANE Select	NP_001366429.1:n.3810-335_3810-334insAGGCGGAGCTGCTTCCTGTGGCTG...