Canonical Allele Identifier: CA1726792131

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404545_94404548delinsTTTC , CM000669.2:g.94404545_94404548delinsTTTC	GRCh38
NC_000007.13:g.94033857_94033860delinsTTTC , CM000669.1:g.94033857_94033860delinsTTTC	GRCh37
NC_000007.12:g.93871793_93871796delinsTTTC	NCBI36
NG_007405.1:g.14985_14988delinsTTTC , LRG_2:g.14985_14988delinsTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.280-11_280-8delinsTTTC MANE Select	ENSP00000297268.6:n.280-11_280-8delinsTTTC
ENST00000297268.10:c.280-11_280-8delinsTTTC	ENSP00000297268.6:n.280-11_280-8delinsTTTC
ENST00000620463.1:c.274-11_274-8delinsTTTC	ENSP00000477719.1:n.274-11_274-8delinsTTTC
NM_000089.3:c.280-11_280-8delinsTTTC , LRG_2t1:c.280-11_280-8delinsTTTC	NP_000080.2:n.280-11_280-8delinsTTTC
NM_000089.4:c.280-11_280-8delinsTTTC MANE Select	NP_000080.2:n.280-11_280-8delinsTTTC