Canonical Allele Identifier: CA10067439

Gene: COL18A1 SLC19A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504419dup , CM000683.2:g.45504419dup	GRCh38
NC_000021.8:g.46924333dup , CM000683.1:g.46924333dup	GRCh37
NC_000021.7:g.45748761dup	NCBI36
NG_011903.1:g.104237dup
NG_028278.2:g.63729dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3271dup (COL18A1)
ENST00000651438.1:c.2731dup (COL18A1)
ENST00000342220.9:c.772dup (COL18A1)
ENST00000355480.9:c.3271dup (COL18A1)
ENST00000359759.8:c.3976dup (COL18A1)
ENST00000400337.6:c.2731dup (COL18A1)
ENST00000417954.5:c.498-5803dup (SLC19A1)
ENST00000567670.5:c.1294-5803dup (SLC19A1)	ENSP00000457278.1:n.1294-5803dup
NM_030582.3:c.3271dup (COL18A1)
NM_130444.2:c.3976dup (COL18A1)
NM_130445.3:c.2731dup (COL18A1)
XM_011529707.1:c.1585-1446dup (SLC19A1)	XP_011528009.1:n.1585-1446dup
XM_017028445.2:c.1585-1446dup (SLC19A1)	XP_016883934.1:n.1585-1446dup
NM_030582.4:c.3271dup (COL18A1)
NM_130444.3:c.3976dup (COL18A1)
NM_130445.4:c.2731dup (COL18A1)
NM_001379500.1:c.2731dup (COL18A1)