Canonical Allele Identifier: CA10065950

Gene: COL18A1

Linked Data

• dbSNP Id: rs750120765
• ExAC: 21:46896294 G / GCCA
• gnomAD v2: 21-46896294-G-GCCA
• gnomAD v4: 21-45476380-G-GCCA
• MyVariant Identifiers: chr21:g.46896294_46896295insCCA (hg19) ; chr21:g.45476380_45476381insCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45476383_45476385dup , CM000683.2:g.45476383_45476385dup	GRCh38
NC_000021.8:g.46896297_46896299dup , CM000683.1:g.46896297_46896299dup	GRCh37
NC_000021.7:g.45720725_45720727dup	NCBI36
NG_011903.1:g.76201_76203dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.1371_1373dup	ENSP00000347665.5:p.Pro458_Pro459insPro
ENST00000651438.1:c.831_833dup MANE Select	ENSP00000498485.1:p.Pro278_Pro279insPro
ENST00000355480.9:c.1371_1373dup	ENSP00000347665.5:p.Pro458_Pro459insPro
ENST00000359759.8:c.2076_2078dup	ENSP00000352798.4:p.Pro693_Pro694insPro
ENST00000400337.6:c.831_833dup	ENSP00000383191.2:p.Pro278_Pro279insPro
NM_030582.3:c.1371_1373dup	NP_085059.2:p.Pro458_Pro459insPro
NM_130444.2:c.2076_2078dup	NP_569711.2:p.Pro693_Pro694insPro
NM_130445.3:c.831_833dup	NP_569712.2:p.Pro278_Pro279insPro
NM_030582.4:c.1371_1373dup	NP_085059.2:p.Pro458_Pro459insPro
NM_130444.3:c.2076_2078dup	NP_569711.2:p.Pro693_Pro694insPro
NM_130445.4:c.831_833dup	NP_569712.2:p.Pro278_Pro279insPro
NM_001379500.1:c.831_833dup MANE Select	NP_001366429.1:p.Pro278_Pro279insPro