Canonical Allele Identifier: CA10607193

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 291485
• ClinVar RCV Id: RCV000300471 ; RCV000335457 ; RCV000399251
• dbSNP Id: rs532806397
• gnomAD v2: 1-103342946-C-CT
• gnomAD v3: 1-102877390-C-CT
• gnomAD v4: 1-102877390-C-CT
• MyVariant Identifiers: chr1:g.103342947dupT (hg19) ; chr1:g.103342946_103342947insT (hg19) ; chr1:g.102877391dupT (hg38) ; chr1:g.102877390_102877391insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102877391dup , CM000663.2:g.102877391dup	GRCh38
NC_000001.10:g.103342947dup , CM000663.1:g.103342947dup	GRCh37
NC_000001.9:g.103115535dup	NCBI36
NG_008033.1:g.236106dup
NG_008033.2:g.236106dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.*628dup MANE Select	ENSP00000359114.3:n.*628dup
ENST00000353414.8:c.*628dup	ENSP00000302551.6:n.*628dup
ENST00000358392.6:c.*628dup	ENSP00000351163.2:n.*628dup
ENST00000370096.7:c.*628dup	ENSP00000359114.3:n.*628dup
NM_001190709.1:c.*628dup	NP_001177638.1:n.*628dup
NM_001854.3:c.*628dup	NP_001845.3:n.*628dup
NM_080629.2:c.*628dup	NP_542196.2:n.*628dup
NM_080630.3:c.*628dup	NP_542197.3:n.*628dup
XM_011540720.1:c.*628dup	XP_011539022.1:n.*628dup
XM_011540721.1:c.*628dup	XP_011539023.1:n.*628dup
NR_134980.1:n.6383dup
XM_017000334.1:c.*628dup	XP_016855823.1:n.*628dup
NM_001854.4:c.*628dup MANE Select	NP_001845.3:n.*628dup
NM_080630.4:c.*628dup	NP_542197.3:n.*628dup
NR_134980.2:n.6409dup
NM_001190709.2:c.*628dup	NP_001177638.1:n.*628dup
NM_080629.3:c.*628dup	NP_542196.2:n.*628dup