Canonical Allele Identifier: CA1726782858

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426211_94426216delinsATCTCT , CM000669.2:g.94426211_94426216delinsATCTCT	GRCh38
NC_000007.13:g.94055523_94055528delinsATCTCT , CM000669.1:g.94055523_94055528delinsATCTCT	GRCh37
NC_000007.12:g.93893459_93893464delinsATCTCT	NCBI36
NG_007405.1:g.36651_36656delinsATCTCT , LRG_2:g.36651_36656delinsATCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2997+160_2997+165delinsATCTCT MANE Select	ENSP00000297268.6:n.2997+160_2997+165delinsATCTCT
ENST00000297268.10:c.2997+160_2997+165delinsATCTCT	ENSP00000297268.6:n.2997+160_2997+165delinsATCTCT
ENST00000478215.1:n.556+160_556+165delinsATCTCT
ENST00000481570.5:n.2970+160_2970+165delinsATCTCT
ENST00000620463.1:c.2991+160_2991+165delinsATCTCT	ENSP00000477719.1:n.2991+160_2991+165delinsATCTCT
NM_000089.3:c.2997+160_2997+165delinsATCTCT , LRG_2t1:c.2997+160_2997+165delinsATCTCT	NP_000080.2:n.2997+160_2997+165delinsATCTCT
NM_000089.4:c.2997+160_2997+165delinsATCTCT MANE Select	NP_000080.2:n.2997+160_2997+165delinsATCTCT