Canonical Allele Identifier: CA2753572110

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188994334_188994335insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG , CM000664.2:g.188994334_188994335insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG	GRCh38
NC_000002.11:g.189859060_189859061insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG , CM000664.1:g.189859060_189859061insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG	GRCh37
NC_000002.10:g.189567305_189567306insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG	NCBI36
NG_007404.1:g.24962_24963insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG , LRG_3:g.24962_24963insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1194+2_1194+3insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG	ENSP00000415346.2:n.1194+2_1194+3insGAGCCTGGTAAGAATGGTGCCAAAG...
ENST00000304636.9:c.1293+2_1293+3insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG MANE Select	ENSP00000304408.4:n.1293+2_1293+3insGAGCCTGGTAAGAATGGTGCCAAAG...
ENST00000304636.7:c.1293+2_1293+3insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG	ENSP00000304408.3:n.1293+2_1293+3insGAGCCTGGTAAGAATGGTGCCAAAG...
ENST00000317840.9:c.1293+2_1293+3insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG	ENSP00000315243.6:n.1293+2_1293+3insGAGCCTGGTAAGAATGGTGCCAAAG...
NM_000090.3:c.1293+2_1293+3insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG , LRG_3t1:c.1293+2_1293+3insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG	NP_000081.1:n.1293+2_1293+3insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGC...
NM_000090.4:c.1293+2_1293+3insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG MANE Select	NP_000081.2:n.1293+2_1293+3insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGC...