Canonical Allele Identifier: CA2392171509

Gene: COL18A1

Linked Data

• dbSNP Id: rs2035646540
• gnomAD v4: 21-45476285-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45476287del , CM000683.2:g.45476287del	GRCh38
NC_000021.8:g.46896201del , CM000683.1:g.46896201del	GRCh37
NC_000021.7:g.45720629del	NCBI36
NG_011903.1:g.76105del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.1339-64del	ENSP00000347665.5:n.1339-64del
ENST00000651438.1:c.799-64del MANE Select	ENSP00000498485.1:n.799-64del
ENST00000355480.9:c.1339-64del	ENSP00000347665.5:n.1339-64del
ENST00000359759.8:c.2044-64del	ENSP00000352798.4:n.2044-64del
ENST00000400337.6:c.799-64del	ENSP00000383191.2:n.799-64del
NM_030582.3:c.1339-64del	NP_085059.2:n.1339-64del
NM_130444.2:c.2044-64del	NP_569711.2:n.2044-64del
NM_130445.3:c.799-64del	NP_569712.2:n.799-64del
NM_030582.4:c.1339-64del	NP_085059.2:n.1339-64del
NM_130444.3:c.2044-64del	NP_569711.2:n.2044-64del
NM_130445.4:c.799-64del	NP_569712.2:n.799-64del
NM_001379500.1:c.799-64del MANE Select	NP_001366429.1:n.799-64del