Canonical Allele Identifier: CA1726792116

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404524_94404528delinsGCTAA , CM000669.2:g.94404524_94404528delinsGCTAA	GRCh38
NC_000007.13:g.94033836_94033840delinsGCTAA , CM000669.1:g.94033836_94033840delinsGCTAA	GRCh37
NC_000007.12:g.93871772_93871776delinsGCTAA	NCBI36
NG_007405.1:g.14964_14968delinsGCTAA , LRG_2:g.14964_14968delinsGCTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.280-32_280-28delinsGCTAA MANE Select	ENSP00000297268.6:n.280-32_280-28delinsGCTAA
ENST00000297268.10:c.280-32_280-28delinsGCTAA	ENSP00000297268.6:n.280-32_280-28delinsGCTAA
ENST00000620463.1:c.274-32_274-28delinsGCTAA	ENSP00000477719.1:n.274-32_274-28delinsGCTAA
NM_000089.3:c.280-32_280-28delinsGCTAA , LRG_2t1:c.280-32_280-28delinsGCTAA	NP_000080.2:n.280-32_280-28delinsGCTAA
NM_000089.4:c.280-32_280-28delinsGCTAA MANE Select	NP_000080.2:n.280-32_280-28delinsGCTAA