Canonical Allele Identifier: CA2528714016

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189007539_189007540insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT , CM000664.2:g.189007539_189007540insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT	GRCh38
NC_000002.11:g.189872265_189872266insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT , CM000664.1:g.189872265_189872266insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT	GRCh37
NC_000002.10:g.189580510_189580511insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT	NCBI36
NG_007404.1:g.38167_38168insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT , LRG_3:g.38167_38168insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3196_3197insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT	ENSP00000415346.2:p.Glu1066GlyfsTer23
ENST00000304636.9:c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT MANE Select	ENSP00000304408.4:p.Glu1099GlyfsTer23
ENST00000304636.7:c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT	ENSP00000304408.3:p.Glu1099GlyfsTer23
ENST00000317840.9:c.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT	ENSP00000315243.6:n.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGA...
NM_000090.3:c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT , LRG_3t1:c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT	NP_000081.1:p.Glu1099GlyfsTer23
NM_000090.4:c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAAAACGAATGGGGCGAAATTGCATTCACTCCTTGGGAAGATTAAGCTTCTATAAGACAATTTGCAATAAAGTTTTTAGCTACGTCTAAACTTATATTGTATAT MANE Select	NP_000081.2:p.Glu1099GlyfsTer23