Canonical Allele Identifier: CA10065375

Gene: COL18A1

Linked Data

• ClinVar Variation Id: 402553
• ClinVar RCV Id: RCV000455770 ; RCV001865412
• dbSNP Id: rs752078007
• ExAC: 21:46875508 C / CG
• gnomAD v2: 21-46875508-C-CG
• gnomAD v4: 21-45455594-C-CG
• MyVariant Identifiers: chr21:g.46875511dupG (hg19) ; chr21:g.46875508_46875509insG (hg19) ; chr21:g.45455597dupG (hg38) ; chr21:g.45455594_45455595insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45455597dup , CM000683.2:g.45455597dup	GRCh38
NC_000021.8:g.46875511dup , CM000683.1:g.46875511dup	GRCh37
NC_000021.7:g.45699939dup	NCBI36
NG_011903.1:g.55415dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.67dup	ENSP00000347665.5:p.Ala23GlyfsTer13
ENST00000651438.1:c.107-12645dup MANE Select	ENSP00000498485.1:n.107-12645dup
ENST00000355480.9:c.67dup	ENSP00000347665.5:p.Ala23GlyfsTer13
ENST00000359759.8:c.67dup	ENSP00000352798.4:p.Ala23GlyfsTer13
ENST00000400337.6:c.107-12645dup	ENSP00000383191.2:n.107-12645dup
NM_030582.3:c.67dup	NP_085059.2:p.Ala23GlyfsTer13
NM_130444.2:c.67dup	NP_569711.2:p.Ala23GlyfsTer13
NM_130445.3:c.107-12645dup	NP_569712.2:n.107-12645dup
NM_030582.4:c.67dup	NP_085059.2:p.Ala23GlyfsTer13
NM_130444.3:c.67dup	NP_569711.2:p.Ala23GlyfsTer13
NM_130445.4:c.107-12645dup	NP_569712.2:n.107-12645dup
NM_001379500.1:c.107-12645dup MANE Select	NP_001366429.1:n.107-12645dup