Canonical Allele Identifier: CA286187
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 101304
ClinVar RCV Id: RCV000087542
dbSNP Id: rs587779590
MyVariant Identifiers: chr2:g.189868507_189868520delinsGACCTGAGAC (hg19) chr2:g.189003781_189003794delinsGACCTGAGAC (hg38)
PubMed: PMID:21637106
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189003781_189003794delinsGACCTGAGAC , CM000664.2:g.189003781_189003794delinsGACCTGAGAC GRCh38
NC_000002.11:g.189868507_189868520delinsGACCTGAGAC , CM000664.1:g.189868507_189868520delinsGACCTGAGAC GRCh37
NC_000002.10:g.189576752_189576765delinsGACCTGAGAC NCBI36
NG_007404.1:g.34409_34422delinsGACCTGAGAC , LRG_3:g.34409_34422delinsGACCTGAGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2556_2562+7delinsGACCTGAGAC
ENST00000304636.9:c.2655_2661+7delinsGACCTGAGAC
ENST00000304636.7:c.2655_2661+7delinsGACCTGAGAC
ENST00000317840.9:c.2527+745_2527+758delinsGACCTGAGAC ENSP00000315243.6:n.2527+745_2527+758delinsGACCTGAGAC
ENST00000467886.1:n.90_103delinsGACCTGAGAC
NM_000090.3:c.2655_2661+7delinsGACCTGAGAC , LRG_3t1:c.2655_2661+7delinsGACCTGAGAC
NM_000090.4:c.2655_2661+7delinsGACCTGAGAC
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