Canonical Allele Identifier: CA2392171575

Gene: COL18A1

Linked Data

• dbSNP Id: rs2035652601

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45476380_45476391dup , CM000683.2:g.45476380_45476391dup	GRCh38
NC_000021.8:g.46896294_46896305dup , CM000683.1:g.46896294_46896305dup	GRCh37
NC_000021.7:g.45720722_45720733dup	NCBI36
NG_011903.1:g.76198_76209dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.1368_1379dup	ENSP00000347665.5:p.Val460_Thr461insProPr...
ENST00000651438.1:c.828_839dup MANE Select	ENSP00000498485.1:p.Val280_Thr281insProPr...
ENST00000355480.9:c.1368_1379dup	ENSP00000347665.5:p.Val460_Thr461insProPr...
ENST00000359759.8:c.2073_2084dup	ENSP00000352798.4:p.Val695_Thr696insProPr...
ENST00000400337.6:c.828_839dup	ENSP00000383191.2:p.Val280_Thr281insProPr...
NM_030582.3:c.1368_1379dup	NP_085059.2:p.Val460_Thr461insProProProVa...
NM_130444.2:c.2073_2084dup	NP_569711.2:p.Val695_Thr696insProProProVa...
NM_130445.3:c.828_839dup	NP_569712.2:p.Val280_Thr281insProProProVa...
NM_030582.4:c.1368_1379dup	NP_085059.2:p.Val460_Thr461insProProProVa...
NM_130444.3:c.2073_2084dup	NP_569711.2:p.Val695_Thr696insProProProVa...
NM_130445.4:c.828_839dup	NP_569712.2:p.Val280_Thr281insProProProVa...
NM_001379500.1:c.828_839dup MANE Select	NP_001366429.1:p.Val280_Thr281insProProPr...