Canonical Allele Identifier: CA1726790955

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401710_94401715delinsCTAAGT , CM000669.2:g.94401710_94401715delinsCTAAGT	GRCh38
NC_000007.13:g.94031022_94031027delinsCTAAGT , CM000669.1:g.94031022_94031027delinsCTAAGT	GRCh37
NC_000007.12:g.93868958_93868963delinsCTAAGT	NCBI36
NG_007405.1:g.12150_12155delinsCTAAGT , LRG_2:g.12150_12155delinsCTAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.279+90_279+95delinsCTAAGT MANE Select	ENSP00000297268.6:n.279+90_279+95delinsCTAAGT
ENST00000297268.10:c.279+90_279+95delinsCTAAGT	ENSP00000297268.6:n.279+90_279+95delinsCTAAGT
ENST00000620463.1:c.273+90_273+95delinsCTAAGT	ENSP00000477719.1:n.273+90_273+95delinsCTAAGT
NM_000089.3:c.279+90_279+95delinsCTAAGT , LRG_2t1:c.279+90_279+95delinsCTAAGT	NP_000080.2:n.279+90_279+95delinsCTAAGT
NM_000089.4:c.279+90_279+95delinsCTAAGT MANE Select	NP_000080.2:n.279+90_279+95delinsCTAAGT