Canonical Allele Identifier: CA2557316365

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511837_45511838insT , CM000683.2:g.45511837_45511838insT	GRCh38
NC_000021.8:g.46931751_46931752insT , CM000683.1:g.46931751_46931752insT	GRCh37
NC_000021.7:g.45756179_45756180insT	NCBI36
NG_011903.1:g.111646_111647insT
NG_028278.2:g.56306_56307insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4350-351_4350-350insT (COL18A1)	ENSP00000347665.5:n.4350-351_4350-350insT
ENST00000651438.1:c.3810-351_3810-350insT (COL18A1) MANE Select	ENSP00000498485.1:n.3810-351_3810-350insT
ENST00000342220.9:c.1854-351_1854-350insT (COL18A1)	ENSP00000339118.5:n.1854-351_1854-350insT
ENST00000355480.9:c.4350-351_4350-350insT (COL18A1)	ENSP00000347665.5:n.4350-351_4350-350insT
ENST00000359759.8:c.5055-351_5055-350insT (COL18A1)	ENSP00000352798.4:n.5055-351_5055-350insT
ENST00000400337.6:c.3810-351_3810-350insT (COL18A1)	ENSP00000383191.2:n.3810-351_3810-350insT
ENST00000417954.5:c.498-13226_498-13225insA (SLC19A1)
ENST00000423214.1:c.764-351_764-350insT (COL18A1)
ENST00000473212.1:n.2136-351_2136-350insT (COL18A1)
ENST00000567670.5:c.1294-13226_1294-13225insA (SLC19A1)	ENSP00000457278.1:n.1294-13226_1294-13225insA
NM_030582.3:c.4341-351_4341-350insT (COL18A1)	NP_085059.2:n.4341-351_4341-350insT
NM_130444.2:c.5046-351_5046-350insT (COL18A1)	NP_569711.2:n.5046-351_5046-350insT
NM_130445.3:c.3801-351_3801-350insT (COL18A1)	NP_569712.2:n.3801-351_3801-350insT
XM_011529707.1:c.1585-8869_1585-8868insA (SLC19A1)	XP_011528009.1:n.1585-8869_1585-8868insA
XM_017028445.2:c.1585-8869_1585-8868insA (SLC19A1)	XP_016883934.1:n.1585-8869_1585-8868insA
NM_030582.4:c.4341-351_4341-350insT (COL18A1)	NP_085059.2:n.4341-351_4341-350insT
NM_130444.3:c.5046-351_5046-350insT (COL18A1)	NP_569711.2:n.5046-351_5046-350insT
NM_130445.4:c.3801-351_3801-350insT (COL18A1)	NP_569712.2:n.3801-351_3801-350insT
NM_001379500.1:c.3810-351_3810-350insT (COL18A1) MANE Select	NP_001366429.1:n.3810-351_3810-350insT