Canonical Allele Identifier: CA1315401738

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189001203_189001205delinsCAA , CM000664.2:g.189001203_189001205delinsCAA	GRCh38
NC_000002.11:g.189865929_189865931delinsCAA , CM000664.1:g.189865929_189865931delinsCAA	GRCh37
NC_000002.10:g.189574174_189574176delinsCAA	NCBI36
NG_007404.1:g.31831_31833delinsCAA , LRG_3:g.31831_31833delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2185-194_2185-192delinsCAA	ENSP00000415346.2:n.2185-194_2185-192delinsCAA
ENST00000304636.9:c.2284-194_2284-192delinsCAA MANE Select	ENSP00000304408.4:n.2284-194_2284-192delinsCAA
ENST00000304636.7:c.2284-194_2284-192delinsCAA	ENSP00000304408.3:n.2284-194_2284-192delinsCAA
ENST00000317840.9:c.2284-194_2284-192delinsCAA	ENSP00000315243.6:n.2284-194_2284-192delinsCAA
NM_000090.3:c.2284-194_2284-192delinsCAA , LRG_3t1:c.2284-194_2284-192delinsCAA	NP_000081.1:n.2284-194_2284-192delinsCAA
NM_000090.4:c.2284-194_2284-192delinsCAA MANE Select	NP_000081.2:n.2284-194_2284-192delinsCAA