Canonical Allele Identifier: CA1726783511

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426636_94426641delinsATCCAT , CM000669.2:g.94426636_94426641delinsATCCAT	GRCh38
NC_000007.13:g.94055948_94055953delinsATCCAT , CM000669.1:g.94055948_94055953delinsATCCAT	GRCh37
NC_000007.12:g.93893884_93893889delinsATCCAT	NCBI36
NG_007405.1:g.37076_37081delinsATCCAT , LRG_2:g.37076_37081delinsATCCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3105+106_3105+111delinsATCCAT MANE Select	ENSP00000297268.6:n.3105+106_3105+111delinsATCCAT
ENST00000297268.10:c.3105+106_3105+111delinsATCCAT	ENSP00000297268.6:n.3105+106_3105+111delinsATCCAT
ENST00000478215.1:n.770_775delinsATCCAT
ENST00000481570.5:n.3184_3189delinsATCCAT
ENST00000488121.1:n.21+106_21+111delinsATCCAT
ENST00000620463.1:c.3099+106_3099+111delinsATCCAT	ENSP00000477719.1:n.3099+106_3099+111delinsATCCAT
NM_000089.3:c.3105+106_3105+111delinsATCCAT , LRG_2t1:c.3105+106_3105+111delinsATCCAT	NP_000080.2:n.3105+106_3105+111delinsATCCAT
NM_000089.4:c.3105+106_3105+111delinsATCCAT MANE Select	NP_000080.2:n.3105+106_3105+111delinsATCCAT