Canonical Allele Identifier: CA645602036

Gene: COL18A1

Linked Data

• dbSNP Id: rs760175310
• gnomAD v3: 21-45476383-AC-A
• gnomAD v4: 21-45476383-AC-A
• COSMIC: COSM5547524 ; COSM5547525

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45476389del , CM000683.2:g.45476389del	GRCh38
NC_000021.8:g.46896303del , CM000683.1:g.46896303del	GRCh37
NC_000021.7:g.45720731del	NCBI36
NG_011903.1:g.76207del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.1377del	ENSP00000347665.5:p.Val460SerfsTer29
ENST00000651438.1:c.837del MANE Select	ENSP00000498485.1:p.Val280SerfsTer29
ENST00000355480.9:c.1377del	ENSP00000347665.5:p.Val460SerfsTer29
ENST00000359759.8:c.2082del	ENSP00000352798.4:p.Val695SerfsTer29
ENST00000400337.6:c.837del	ENSP00000383191.2:p.Val280SerfsTer29
NM_030582.3:c.1377del	NP_085059.2:p.Val460SerfsTer29
NM_130444.2:c.2082del	NP_569711.2:p.Val695SerfsTer29
NM_130445.3:c.837del	NP_569712.2:p.Val280SerfsTer29
NM_030582.4:c.1377del	NP_085059.2:p.Val460SerfsTer29
NM_130444.3:c.2082del	NP_569711.2:p.Val695SerfsTer29
NM_130445.4:c.837del	NP_569712.2:p.Val280SerfsTer29
NM_001379500.1:c.837del MANE Select	NP_001366429.1:p.Val280SerfsTer29