Canonical Allele Identifier: CA1726790998

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401798_94401799delinsCT , CM000669.2:g.94401798_94401799delinsCT	GRCh38
NC_000007.13:g.94031110_94031111delinsCT , CM000669.1:g.94031110_94031111delinsCT	GRCh37
NC_000007.12:g.93869046_93869047delinsCT	NCBI36
NG_007405.1:g.12238_12239delinsCT , LRG_2:g.12238_12239delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.279+178_279+179delinsCT MANE Select	ENSP00000297268.6:n.279+178_279+179delinsCT
ENST00000297268.10:c.279+178_279+179delinsCT	ENSP00000297268.6:n.279+178_279+179delinsCT
ENST00000620463.1:c.273+178_273+179delinsCT	ENSP00000477719.1:n.273+178_273+179delinsCT
NM_000089.3:c.279+178_279+179delinsCT , LRG_2t1:c.279+178_279+179delinsCT	NP_000080.2:n.279+178_279+179delinsCT
NM_000089.4:c.279+178_279+179delinsCT MANE Select	NP_000080.2:n.279+178_279+179delinsCT