Canonical Allele Identifier: CA645372373

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 431451
• ClinVar RCV Id: RCV000496991
• dbSNP Id: rs1135402747
• MyVariant Identifiers: chr2:g.189868141_189868142insATTAGGTGTCAAAGGTGAACGTGGCAG (hg19) ; chr2:g.189003415_189003416insATTAGGTGTCAAAGGTGAACGTGGCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189003415_189003416insATTAGGTGTCAAAGGTGAACGTGGCAG , CM000664.2:g.189003415_189003416insATTAGGTGTCAAAGGTGAACGTGGCAG	GRCh38
NC_000002.11:g.189868141_189868142insATTAGGTGTCAAAGGTGAACGTGGCAG , CM000664.1:g.189868141_189868142insATTAGGTGTCAAAGGTGAACGTGGCAG	GRCh37
NC_000002.10:g.189576386_189576387insATTAGGTGTCAAAGGTGAACGTGGCAG	NCBI36
NG_007404.1:g.34043_34044insATTAGGTGTCAAAGGTGAACGTGGCAG , LRG_3:g.34043_34044insATTAGGTGTCAAAGGTGAACGTGGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2459_2460insATTAGGTGTCAAAGGTGAACGTGGCAG	ENSP00000415346.2:p.Pro820_Pro821insLeuGlyValLysGlyGluArgGlyS...
ENST00000304636.9:c.2558_2559insATTAGGTGTCAAAGGTGAACGTGGCAG MANE Select	ENSP00000304408.4:p.Pro853_Pro854insLeuGlyValLysGlyGluArgGlyS...
ENST00000304636.7:c.2558_2559insATTAGGTGTCAAAGGTGAACGTGGCAG	ENSP00000304408.3:p.Pro853_Pro854insLeuGlyValLysGlyGluArgGlyS...
ENST00000317840.9:c.2527+379_2527+380insATTAGGTGTCAAAGGTGAACGTGGCAG	ENSP00000315243.6:n.2527+379_2527+380insATTAGGTGTCAAAGGTGAACG...
NM_000090.3:c.2558_2559insATTAGGTGTCAAAGGTGAACGTGGCAG , LRG_3t1:c.2558_2559insATTAGGTGTCAAAGGTGAACGTGGCAG	NP_000081.1:p.Pro853_Pro854insLeuGlyValLysGlyGluArgGlySer
NM_000090.4:c.2558_2559insATTAGGTGTCAAAGGTGAACGTGGCAG MANE Select	NP_000081.2:p.Pro853_Pro854insLeuGlyValLysGlyGluArgGlySer