Canonical Allele Identifier: CA2753572343

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188997390_188997391insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAA , CM000664.2:g.188997390_188997391insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAA	GRCh38
NC_000002.11:g.189862116_189862117insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAA , CM000664.1:g.189862116_189862117insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAA	GRCh37
NC_000002.10:g.189570361_189570362insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAA	NCBI36
NG_007404.1:g.28018_28019insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAA , LRG_3:g.28018_28019insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1770+1_1770+2insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAA	ENSP00000415346.2:n.1770+1_1770+2insGGCCTGGTGGTGACAAAGGAGACAC...
ENST00000304636.9:c.1869+1_1869+2insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAA MANE Select	ENSP00000304408.4:n.1869+1_1869+2insGGCCTGGTGGTGACAAAGGAGACAC...
ENST00000304636.7:c.1869+1_1869+2insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAA	ENSP00000304408.3:n.1869+1_1869+2insGGCCTGGTGGTGACAAAGGAGACAC...
ENST00000317840.9:c.1869+1_1869+2insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAA	ENSP00000315243.6:n.1869+1_1869+2insGGCCTGGTGGTGACAAAGGAGACAC...
NM_000090.3:c.1869+1_1869+2insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAA , LRG_3t1:c.1869+1_1869+2insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAA	NP_000081.1:n.1869+1_1869+2insGGCCTGGTGGTGACAAAGGAGACACAGGACC...
NM_000090.4:c.1869+1_1869+2insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAA MANE Select	NP_000081.2:n.1869+1_1869+2insGGCCTGGTGGTGACAAAGGAGACACAGGACC...