Canonical Allele Identifier: CA1726777024

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94423118_94423122delinsTGTAA , CM000669.2:g.94423118_94423122delinsTGTAA	GRCh38
NC_000007.13:g.94052430_94052434delinsTGTAA , CM000669.1:g.94052430_94052434delinsTGTAA	GRCh37
NC_000007.12:g.93890366_93890370delinsTGTAA	NCBI36
NG_007405.1:g.33558_33562delinsTGTAA , LRG_2:g.33558_33562delinsTGTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2565_2565+4delinsTGTAA
ENST00000297268.10:c.2565_2565+4delinsTGTAA
ENST00000481570.5:n.648_652delinsTGTAA
ENST00000620463.1:c.2559_2559+4delinsTGTAA
NM_000089.3:c.2565_2565+4delinsTGTAA , LRG_2t1:c.2565_2565+4delinsTGTAA
NM_000089.4:c.2565_2565+4delinsTGTAA