Canonical Allele Identifier: CA2560642434

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189007539_189007540insGAGTAGATGGTTTTGAAGCGAAAGAA , CM000664.2:g.189007539_189007540insGAGTAGATGGTTTTGAAGCGAAAGAA	GRCh38
NC_000002.11:g.189872265_189872266insGAGTAGATGGTTTTGAAGCGAAAGAA , CM000664.1:g.189872265_189872266insGAGTAGATGGTTTTGAAGCGAAAGAA	GRCh37
NC_000002.10:g.189580510_189580511insGAGTAGATGGTTTTGAAGCGAAAGAA	NCBI36
NG_007404.1:g.38167_38168insGAGTAGATGGTTTTGAAGCGAAAGAA , LRG_3:g.38167_38168insGAGTAGATGGTTTTGAAGCGAAAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3196_3197insGAGTAGATGGTTTTGAAGCGAAAGAA	ENSP00000415346.2:p.Glu1066GlyfsTer?
ENST00000304636.9:c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAA MANE Select	ENSP00000304408.4:p.Glu1099GlyfsTer?
ENST00000304636.7:c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAA	ENSP00000304408.3:p.Glu1099GlyfsTer?
ENST00000317840.9:c.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGAAAGAA	ENSP00000315243.6:n.2528-515_2528-514insGAGTAGATGGTTTTGAAGCGA...
NM_000090.3:c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAA , LRG_3t1:c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAA	NP_000081.1:p.Glu1099GlyfsTer?
NM_000090.4:c.3295_3296insGAGTAGATGGTTTTGAAGCGAAAGAA MANE Select	NP_000081.2:p.Glu1099GlyfsTer?