Canonical Allele Identifier: CA1726782881

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426218_94426226delinsATGCTTGTT , CM000669.2:g.94426218_94426226delinsATGCTTGTT	GRCh38
NC_000007.13:g.94055530_94055538delinsATGCTTGTT , CM000669.1:g.94055530_94055538delinsATGCTTGTT	GRCh37
NC_000007.12:g.93893466_93893474delinsATGCTTGTT	NCBI36
NG_007405.1:g.36658_36666delinsATGCTTGTT , LRG_2:g.36658_36666delinsATGCTTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2997+167_2997+175delinsATGCTTGTT MANE Select	ENSP00000297268.6:n.2997+167_2997+175delinsATGCTTGTT
ENST00000297268.10:c.2997+167_2997+175delinsATGCTTGTT	ENSP00000297268.6:n.2997+167_2997+175delinsATGCTTGTT
ENST00000478215.1:n.556+167_556+175delinsATGCTTGTT
ENST00000481570.5:n.2970+167_2970+175delinsATGCTTGTT
ENST00000620463.1:c.2991+167_2991+175delinsATGCTTGTT	ENSP00000477719.1:n.2991+167_2991+175delinsATGCTTGTT
NM_000089.3:c.2997+167_2997+175delinsATGCTTGTT , LRG_2t1:c.2997+167_2997+175delinsATGCTTGTT	NP_000080.2:n.2997+167_2997+175delinsATGCTTGTT
NM_000089.4:c.2997+167_2997+175delinsATGCTTGTT MANE Select	NP_000080.2:n.2997+167_2997+175delinsATGCTTGTT