Canonical Allele Identifier: CA2753572060

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188992229_188992230insGCCC , CM000664.2:g.188992229_188992230insGCCC	GRCh38
NC_000002.11:g.189856955_189856956insGCCC , CM000664.1:g.189856955_189856956insGCCC	GRCh37
NC_000002.10:g.189565200_189565201insGCCC	NCBI36
NG_007404.1:g.22857_22858insGCCC , LRG_3:g.22857_22858insGCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.996+1_996+2insGCCC	ENSP00000415346.2:n.996+1_996+2insGCCC
ENST00000304636.9:c.996+1_996+2insGCCC MANE Select	ENSP00000304408.4:n.996+1_996+2insGCCC
ENST00000304636.7:c.996+1_996+2insGCCC	ENSP00000304408.3:n.996+1_996+2insGCCC
ENST00000317840.9:c.996+1_996+2insGCCC	ENSP00000315243.6:n.996+1_996+2insGCCC
ENST00000450867.1:c.94+1_94+2insGCCC
NM_000090.3:c.996+1_996+2insGCCC , LRG_3t1:c.996+1_996+2insGCCC	NP_000081.1:n.996+1_996+2insGCCC
NM_000090.4:c.996+1_996+2insGCCC MANE Select	NP_000081.2:n.996+1_996+2insGCCC