Canonical Allele Identifier: CA10065944

Gene: COL18A1

Linked Data

• dbSNP Id: rs767138889
• ExAC: 21:46896289 C / CCCGCGCCACCCCCCGTCA
• gnomAD v2: 21-46896289-C-CCCGCGCCACCCCCCGTCA
• gnomAD v4: 21-45476375-C-CCCGCGCCACCCCCCGTCA
• MyVariant Identifiers: chr21:g.46896289_46896290insCCGCGCCACCCCCCGTCA (hg19) ; chr21:g.45476375_45476376insCCGCGCCACCCCCCGTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45476378_45476395dup , CM000683.2:g.45476378_45476395dup	GRCh38
NC_000021.8:g.46896292_46896309dup , CM000683.1:g.46896292_46896309dup	GRCh37
NC_000021.7:g.45720720_45720737dup	NCBI36
NG_011903.1:g.76196_76213dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.1366_1383dup	ENSP00000347665.5:p.Thr461_Thr462insAlaPr...
ENST00000651438.1:c.826_843dup MANE Select	ENSP00000498485.1:p.Thr281_Thr282insAlaPr...
ENST00000355480.9:c.1366_1383dup	ENSP00000347665.5:p.Thr461_Thr462insAlaPr...
ENST00000359759.8:c.2071_2088dup	ENSP00000352798.4:p.Thr696_Thr697insAlaPr...
ENST00000400337.6:c.826_843dup	ENSP00000383191.2:p.Thr281_Thr282insAlaPr...
NM_030582.3:c.1366_1383dup	NP_085059.2:p.Thr461_Thr462insAlaProProPr...
NM_130444.2:c.2071_2088dup	NP_569711.2:p.Thr696_Thr697insAlaProProPr...
NM_130445.3:c.826_843dup	NP_569712.2:p.Thr281_Thr282insAlaProProPr...
NM_030582.4:c.1366_1383dup	NP_085059.2:p.Thr461_Thr462insAlaProProPr...
NM_130444.3:c.2071_2088dup	NP_569711.2:p.Thr696_Thr697insAlaProProPr...
NM_130445.4:c.826_843dup	NP_569712.2:p.Thr281_Thr282insAlaProProPr...
NM_001379500.1:c.826_843dup MANE Select	NP_001366429.1:p.Thr281_Thr282insAlaProPr...