Canonical Allele Identifier: CA1726792089

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404472_94404476delinsCTGCT , CM000669.2:g.94404472_94404476delinsCTGCT	GRCh38
NC_000007.13:g.94033784_94033788delinsCTGCT , CM000669.1:g.94033784_94033788delinsCTGCT	GRCh37
NC_000007.12:g.93871720_93871724delinsCTGCT	NCBI36
NG_007405.1:g.14912_14916delinsCTGCT , LRG_2:g.14912_14916delinsCTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.280-84_280-80delinsCTGCT MANE Select	ENSP00000297268.6:n.280-84_280-80delinsCTGCT
ENST00000297268.10:c.280-84_280-80delinsCTGCT	ENSP00000297268.6:n.280-84_280-80delinsCTGCT
ENST00000620463.1:c.274-84_274-80delinsCTGCT	ENSP00000477719.1:n.274-84_274-80delinsCTGCT
NM_000089.3:c.280-84_280-80delinsCTGCT , LRG_2t1:c.280-84_280-80delinsCTGCT	NP_000080.2:n.280-84_280-80delinsCTGCT
NM_000089.4:c.280-84_280-80delinsCTGCT MANE Select	NP_000080.2:n.280-84_280-80delinsCTGCT