Canonical Allele Identifier: CA2654909368

Gene: COL18A1

Linked Data

• gnomAD v4: 21-45476388-CCGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45476390_45476392del , CM000683.2:g.45476390_45476392del	GRCh38
NC_000021.8:g.46896304_46896306del , CM000683.1:g.46896304_46896306del	GRCh37
NC_000021.7:g.45720732_45720734del	NCBI36
NG_011903.1:g.76208_76210del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.1378_1380del	ENSP00000347665.5:p.Val460del
ENST00000651438.1:c.838_840del MANE Select	ENSP00000498485.1:p.Val280del
ENST00000355480.9:c.1378_1380del	ENSP00000347665.5:p.Val460del
ENST00000359759.8:c.2083_2085del	ENSP00000352798.4:p.Val695del
ENST00000400337.6:c.838_840del	ENSP00000383191.2:p.Val280del
NM_030582.3:c.1378_1380del	NP_085059.2:p.Val460del
NM_130444.2:c.2083_2085del	NP_569711.2:p.Val695del
NM_130445.3:c.838_840del	NP_569712.2:p.Val280del
NM_030582.4:c.1378_1380del	NP_085059.2:p.Val460del
NM_130444.3:c.2083_2085del	NP_569711.2:p.Val695del
NM_130445.4:c.838_840del	NP_569712.2:p.Val280del
NM_001379500.1:c.838_840del MANE Select	NP_001366429.1:p.Val280del