Canonical Allele Identifier: CA285849

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 101111
• ClinVar RCV Id: RCV000087348
• dbSNP Id: rs587779425
• MyVariant Identifiers: chr2:g.189856448_189856462del (hg19) ; chr2:g.188991722_188991736del (hg38)
• PubMed: PMID:9399899 ; PMID:10706896

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188991722_188991736del , CM000664.2:g.188991722_188991736del	GRCh38
NC_000002.11:g.189856448_189856462del , CM000664.1:g.189856448_189856462del	GRCh37
NC_000002.10:g.189564693_189564707del	NCBI36
NG_007404.1:g.22350_22364del , LRG_3:g.22350_22364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.951_951+14del
ENST00000304636.9:c.951_951+14del
ENST00000304636.7:c.951_951+14del
ENST00000317840.9:c.951_951+14del
ENST00000450867.1:c.49_49+14del
NM_000090.3:c.951_951+14del , LRG_3t1:c.951_951+14del
NM_000090.4:c.951_951+14del