Canonical Allele Identifier: CA286411
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 101439
ClinVar RCV Id: RCV000087677
dbSNP Id: rs587779681
MyVariant Identifiers: chr2:g.189853364_189853375delinsTACTAAATATA (hg19) chr2:g.188988638_188988649delinsTACTAAATATA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188988638_188988649delinsTACTAAATATA , CM000664.2:g.188988638_188988649delinsTACTAAATATA GRCh38
NC_000002.11:g.189853364_189853375delinsTACTAAATATA , CM000664.1:g.189853364_189853375delinsTACTAAATATA GRCh37
NC_000002.10:g.189561609_189561620delinsTACTAAATATA NCBI36
NG_007404.1:g.19266_19277delinsTACTAAATATA , LRG_3:g.19266_19277delinsTACTAAATATA

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.631_636+6delinsTACTAAATATA
ENST00000304636.9:c.631_636+6delinsTACTAAATATA
ENST00000304636.7:c.631_636+6delinsTACTAAATATA
ENST00000317840.9:c.631_636+6delinsTACTAAATATA
NM_000090.3:c.631_636+6delinsTACTAAATATA , LRG_3t1:c.631_636+6delinsTACTAAATATA
NM_000090.4:c.631_636+6delinsTACTAAATATA
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