Canonical Allele Identifier: CA1104605113

Gene: COL1A2

Linked Data

• dbSNP Id: rs1791752563
• gnomAD v3: 7-94404472-CTGCT-C
• gnomAD v4: 7-94404472-CTGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404473_94404476del , CM000669.2:g.94404473_94404476del	GRCh38
NC_000007.13:g.94033785_94033788del , CM000669.1:g.94033785_94033788del	GRCh37
NC_000007.12:g.93871721_93871724del	NCBI36
NG_007405.1:g.14913_14916del , LRG_2:g.14913_14916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.280-83_280-80del MANE Select	ENSP00000297268.6:n.280-83_280-80del
ENST00000297268.10:c.280-83_280-80del	ENSP00000297268.6:n.280-83_280-80del
ENST00000620463.1:c.274-83_274-80del	ENSP00000477719.1:n.274-83_274-80del
NM_000089.3:c.280-83_280-80del , LRG_2t1:c.280-83_280-80del	NP_000080.2:n.280-83_280-80del
NM_000089.4:c.280-83_280-80del MANE Select	NP_000080.2:n.280-83_280-80del