Canonical Allele Identifier: CA2580098868

Gene: COL18A1

Linked Data

• ClinVar Variation Id: 1965838
• ClinVar RCV Id: RCV002745367

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45476388_45476389delinsTG , CM000683.2:g.45476388_45476389delinsTG	GRCh38
NC_000021.8:g.46896302_46896303delinsTG , CM000683.1:g.46896302_46896303delinsTG	GRCh37
NC_000021.7:g.45720730_45720731delinsTG	NCBI36
NG_011903.1:g.76206_76207delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.1376_1377delinsTG	ENSP00000347665.5:p.Pro459Leu
ENST00000651438.1:c.836_837delinsTG MANE Select	ENSP00000498485.1:p.Pro279Leu
ENST00000355480.9:c.1376_1377delinsTG	ENSP00000347665.5:p.Pro459Leu
ENST00000359759.8:c.2081_2082delinsTG	ENSP00000352798.4:p.Pro694Leu
ENST00000400337.6:c.836_837delinsTG	ENSP00000383191.2:p.Pro279Leu
NM_030582.3:c.1376_1377delinsTG	NP_085059.2:p.Pro459Leu
NM_130444.2:c.2081_2082delinsTG	NP_569711.2:p.Pro694Leu
NM_130445.3:c.836_837delinsTG	NP_569712.2:p.Pro279Leu
NM_030582.4:c.1376_1377delinsTG	NP_085059.2:p.Pro459Leu
NM_130444.3:c.2081_2082delinsTG	NP_569711.2:p.Pro694Leu
NM_130445.4:c.836_837delinsTG	NP_569712.2:p.Pro279Leu
NM_001379500.1:c.836_837delinsTG MANE Select	NP_001366429.1:p.Pro279Leu