Canonical Allele Identifier: CA2392171586

Gene: COL18A1

Linked Data

• dbSNP Id: rs2035653701

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45476396_45476403dup , CM000683.2:g.45476396_45476403dup	GRCh38
NC_000021.8:g.46896310_46896317dup , CM000683.1:g.46896310_46896317dup	GRCh37
NC_000021.7:g.45720738_45720745dup	NCBI36
NG_011903.1:g.76214_76221dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.1384_1391dup	ENSP00000347665.5:p.Leu465ArgfsTer27
ENST00000651438.1:c.844_851dup MANE Select	ENSP00000498485.1:p.Leu285ArgfsTer27
ENST00000355480.9:c.1384_1391dup	ENSP00000347665.5:p.Leu465ArgfsTer27
ENST00000359759.8:c.2089_2096dup	ENSP00000352798.4:p.Leu700ArgfsTer27
ENST00000400337.6:c.844_851dup	ENSP00000383191.2:p.Leu285ArgfsTer27
NM_030582.3:c.1384_1391dup	NP_085059.2:p.Leu465ArgfsTer27
NM_130444.2:c.2089_2096dup	NP_569711.2:p.Leu700ArgfsTer27
NM_130445.3:c.844_851dup	NP_569712.2:p.Leu285ArgfsTer27
NM_030582.4:c.1384_1391dup	NP_085059.2:p.Leu465ArgfsTer27
NM_130444.3:c.2089_2096dup	NP_569711.2:p.Leu700ArgfsTer27
NM_130445.4:c.844_851dup	NP_569712.2:p.Leu285ArgfsTer27
NM_001379500.1:c.844_851dup MANE Select	NP_001366429.1:p.Leu285ArgfsTer27