Canonical Allele Identifier: CA1726792095

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404479_94404481delinsGTT , CM000669.2:g.94404479_94404481delinsGTT	GRCh38
NC_000007.13:g.94033791_94033793delinsGTT , CM000669.1:g.94033791_94033793delinsGTT	GRCh37
NC_000007.12:g.93871727_93871729delinsGTT	NCBI36
NG_007405.1:g.14919_14921delinsGTT , LRG_2:g.14919_14921delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.280-77_280-75delinsGTT MANE Select	ENSP00000297268.6:n.280-77_280-75delinsGTT
ENST00000297268.10:c.280-77_280-75delinsGTT	ENSP00000297268.6:n.280-77_280-75delinsGTT
ENST00000620463.1:c.274-77_274-75delinsGTT	ENSP00000477719.1:n.274-77_274-75delinsGTT
NM_000089.3:c.280-77_280-75delinsGTT , LRG_2t1:c.280-77_280-75delinsGTT	NP_000080.2:n.280-77_280-75delinsGTT
NM_000089.4:c.280-77_280-75delinsGTT MANE Select	NP_000080.2:n.280-77_280-75delinsGTT